The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Search Results

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 12431259 46, XY, r(7)(p22.3q36.3). ish r(7pter+, 7qtel+, AHT-) intrauterine growth retardation, short stature, microcephaly, hyperactive, clinodactyly of V finger, normal mental/motor development, short attention span, hyperactive behaviour p22.3 q36.3     12431259     Edit
2 8922097_1 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, café-au-lait spots, pigmented naevi p22.3 q36.3     8922097, 10982483 case 12 [10982483]   Edit
3 19375526 45,X,der(7)t(Y;7)(p11.1w11.2;p22.3)[122]/4 5,X[48]de novo Turner syndrome, mild growth retardation, systolicmurmur, patentductus arteriosus, bicuspid aortic valve, short stature, short neck with low posterior hairline, epicanthus, non-constant concomitantstrabismus of right eye, long thin straighteyebrows, long eyelashes, prominent chin and prognatism, vaginal and clitoral hypertrophy, abnormal ovaries, displaced uterus p22.3       19375526   right eye strabismus present in father; maternally derived X-chromosome Edit
4 24039075 46, XY.arr 7p22.3(36480-523731)x0 [hg19] Raine syndrome, protruding tongue, short stature, hypoplastic distal phalanges, wormian bones, pyriform aperture stenosis p22.3 p22.3     24039075   ~487kb deletion; both parents were heterozygous for the deletion; discussion of FAM20C as candidate gene; sensorineural deafness in the paternal side Edit
5 24458843 4?,XX.arr 7p22.3(46,845–665,1 58)x3 de novo sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broadfinger tips, short distal phalanx of fingers, swan neck deformity offingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, unilateral clubfoot, midface retrusion, telecanthus, overhanging nasal tip, flat nose, broad and low hangingcolumella, wide nasal base, crowded teeth, low-set ears,pectus carinatum p22.3 p22.3     24458843   ~618 kb duplication Edit
6 15200505_15 46, XY, der(7)t(7;17)(p22.1;q25.1) pat severe mental retardation, pre- & postnatal developmental delay, micro-brachycephaly, synophrys, long eyelashes, epicanthic fold, flat nasal bridge, bulbous nose, anteverted nostrils, long philtrum, prominent upper lip, high-arched palate, micrognathia, low set dysmorphic ears, postaxial polydactyly of left hand and foot, hypertrichosis, cryptorchidism p22.1   RP11-89J1/ RP11-425P5   15200505 patient 15 monosomy of 7p22.1-pter; breakpoint at 7q lies at about 5.5 Mb from the telomere; father had balanced t(7;17) Edit
7 4145271_1 46, XY, r(7)(p22q36) [57]/ 46, XY, r(7) [double size ring, 2]/ 45, XY, -7 [2]/ 47, XY, r(7), +r(7) [1]/ 46, XY [1] craniosynostosis, microcephaly, severe mental retardation, short stature, unilateral proptosis, ptosis, microcornea, small penis, first-degree hypospaidas, undescended testes p22 q36     537019, 4145271, 1002161, 711238, 539602, 7172483, 6758992, 4043965, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 1 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 33 [6758992], case 28 [7521123]   Edit
8 4145271_2 46, XY, r(7)(p22q36) [52]/ 46, XY, r(7) [double size ring, 1]/ 45, XY, -7 [4]/ 47, XY, r(7), +r(7) [3]/ 46, XY [2] normal intelligence, short stature, microcephaly, asymmetry of skull, sacral dimple, enlarged space between I and II toes p22 q36     4145271, 1002161, 711238, 539602, 537019, 7172483, 6758992, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 2 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 34 [6758992], case 15 [7521123]   Edit
9 624544_proband 46, XY, der(7)t(7;12)(p22;p11) mat mental and motor retardation, hypotonia, high prominent forehead, flat occiput, flat face, broad eyebrows, nystagmus, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, short neck, short fingers and toes, spade-shaped tapering fingers p22       624544 proband, IV-3 (VR) monosoy of 7p22-pter; mother had balanced t(7;12) Edit
10 MCN_19820001-058 46, XY, t(7;8)(10;11)(p22;q24.1)(q26;q23) de novo hypogonadism/d elayed puberty, long/large ear, mental retardation, hypothyroidism/small/a bsent thyroid, behaviour disorder/hyperactivity/p sychosis, short stature - postnatal, seizures p22       MCN ID: 19820001-058 www.mcndb.org Edit
11 MCN_19990002-133 46, XY, t(1;5;7)(p32;q15;p22) facies significantly abnormal, Shunt VSD/ASD/PDA, broad/bifid thumb, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, Syndactyly (other than minimal 2nd and 3rd toes), micrognathia/a gnathia total/retrognathia p22       MCN ID: 19990002-133 www.mcndb.org Edit
12 MCN_20000007-227 46, XX, der(4)t(4;7)(p16.3;p22) de novo mental retardation, cleft hard palate, shunt VSD/ASD/PDA, overlapping toes, small for gestational age (IUGR), low set ears p22       MCN ID: 20000007-227 trisomy of 7p22-pter; www.mcndb.org Edit
13 MCN_19840001-086 46, XX, inv(7)(p14.3p22) broad nasal bridge, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, syndactyly (other than minimal 2nd and 3rd toes) p22 p14.3     MCN ID: 19840001-086 www.mcndb.org Edit
14 12850374_1_4 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases p22 p15     12850374 1 Mitelman Database, Reference No. 10210 Edit
15 1377005_2 80-96, XY?, add(7)(p22), add(10)(q24), dmin, inc prostate cancer p22       1377005 2 Mitelman Database, Reference No. 4067 Edit
16 123589_4_younger 47, XY, +der(21)t(7;21)(p22;q22) mat mental retardation, developmental delay, short stature, umbilical hernia, right inguinal hernia, right testis undescended? p22       123589, 2363431, 10494083 case 4 (III-3, younder sib) [123589], case 46 [10494083] trisomy of 7p22-pter; sibling of 123589_4_older; mother and sister carried balanced t(7;21) Edit
17 2596503 46, XX, der(7)t(7;12)(p22;q11), i(12p) [60.2%]/ 46, XX, der(7)t(7;12)(q36;q11), i(12p) [37.9%]/ 46, XX, der(11)t(11;12)(q25;q11), i(12p) [1.4%]/ 46, XX, i(12p) [0.5%] de novo psychomotor retardation, generalized hypotonia, coarse face, low-set ears, high forehead, prominent & broad cheeks, depressed nasal bridge, abnormal mouth, high-arched palate, hypoplastic tooth enamel, short neck, diastasis recti, coccygeal fovea, clinodactyly of 5th fingers, polysyndactyly of hallux, seizures p22 q36     2596503 proposita   Edit
18 1519644 46, XX, del(7)(p15.3p21.2-21.3) de novo boderline mental retardation, short stature, minor facial anomalies, several skeletal changes p21.3 - 21.2 p15.3     1519644, 7521123, 12548740 RC [1519644], case 9 [7521123], case 8 [12548740]   Edit
19 17937435_1 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p21.3   RP11-125A23/R P11-482M1   17937435 proband NXPH1 identified at bp Edit
20 12818528_2 46, XY, t(3;7)(q27;p21.2) de novo severe developmental delays and mental retardation, profound hearing loss, partial blindness with nystagmus, seizure disorder, several dysmorphic features, ptosis, facial asymmetry, gynecomastia p21.2       12818528, 16131774 case 2 [12818528], case 1 (GC) [16131774], MCN ID:20030004-999 www.mcndb.org Edit
21 Gustavsson_ASHG2003 46, XX, t(7;9)(p21;p21) cleft palate, polydactyly, learning difficulties p21.2   HDAC9/ TWIST1$     Gustavsson et al., ASHG 2003, Program #853 Edit
22 15108196_36_2 rev ish dim(7p14p15) de novo [inv(7p) was detected by PCR] mental retardation, speech delay, malformed ears, small downslanting palpebral fissures, hypermetropia(+6), broad neck, short extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p21.1 p15.2 rs12055954/ rs2704292 rs6946110/ rs6965433 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion in inversion breakpoint at 7p21.1 Edit
23 ECACC_91031202 46, XX, t(2;7)(q33;p21) de novo short stature, cerebral palsy, cleft palate p21       91031202 (cell line: BO0213) www.ecacc.org.uk; data unpublished Edit
24 MCN_19850005-114 46, XY, t(7;16)(p21;q21) scoliosis, enuresis 2, short stature - postnatal p21       MCN ID:19850005-114 www.mcndb.org Edit
25 16254181 t(7;21)(p21;q22) prostate cancer p21   ETV1   16254181   ETV1 (at the beginning of exon 4) fused toTMPRSS2 (21q22); Mitelman Database Reference No. 11191 Edit
26 17108102_PC374 t(7;21)(p21;q22) prostate cancer, androgen-sensitive p21   ETV1   17108102 PC374 TMPRSS2/ETV1 fusion; exon 1 or 2 of ETV1 fuses to exon 5 of TMPRSS2 (two splice varians); Mitelman Database, Reference No. 11717 Edit
27 17228165 46, XX, der(9)add(9p24),1 6qh+ [der(9)t(7,9)(p15.3,p 24)mat] growth-retarded fetus with agenesis of the corpus callosum, enlarged left kidney, single umbilical artery, hypertelorism, depressed nasal bridge, frontal bossing, irregular maxiller alveolar composition, club feet, flexion deformity of the upper extremities, Epstein anomaly, died at 31 week of gestation p15.3       17228165 fetus trisomy of 7p15.3-pter; mother had balanced t(7;9) and 16qh+ Edit
28 22631585 4?,XY.arr 7p15.3-p15.1(22,460,185-29,360,9 60)x1 de novo hand-foot-genital syndrome, developmental delay, speech delay, clinodactyly of 5th fingers, curved and broad great toe, short toes, low-set ears, posterior rotated ears, bifrontal narrowing forehead, short stature, neonatal feeding difficulty p15.3 p15.1     22631585   ~6.9 Mb deletion, paternal origin Edit
29 9815935_T26_2 LOH(7) prostate cancer p15.2   D7S435   9815935 T26   Edit
30 9815935_T47 LOH(7p) prostate cancer p15.2   D7S435   9815935 T47 no 7q alterations Edit
31 MCN_19840002-004 46, XX, inv(7)(p15.2q33) mat facies significantly abnormal, mental retardation, webbed neck/excess skin/cystic hygroma, abnormal ear shape/structure, coloboma of the eyelid, hearing abnormal congenital/a cquired, abnormally placed nipples, short stature - postnatal p15.2 q33     MCN ID: 19840002-004 www.mcndb.org Edit
32 MCN_19960009-281 46, XX, inv(7)(p15.2q33) hypogonadism/d elayed puberty, hypogonadotrophic hypogonadism, hearing abnormal congenital/a cquired, short stature - postnatal p15.2 q33     MCN ID: 19960009-281 www.mcndb.org Edit
33 12850374_2 46, XX, der(7)t(7;21)(p11-12;q11-21), t(7;17)(p15;q12), r(8), der(13)del(13)(?q12q14)del(13)(?q22) low-grade malignant endometrial stromal sarcoma, lung metastases p15.2 p11 - 12 JAZF1_exon3   12850374 2 JAZF1/JJAZ1 fusion; Mitelman Database, Reference No. 10210 Edit
34 15108196_36_1 rev ish dim(7p14p15) de novo [inv(7p) was detected by PCR] mental retardation, speech delay, malformed ears, small downslanting palpebral fissures, hypermetropia(+6), broad neck, short extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p15.2 p14.2 rs6946110/ rs6965433 rs2541905/ rs2592858 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion in inversion breakpoint at 7p21.1 Edit
35 11005146_1 45, XY, psu dic(22;7)(p13;p22.3) del(7)(p11.2p15.1) de novo craniosynostosis, bilateral cataracts, dysmorphic facies, bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, developmental delay, hypostasis p15.1 p11.2     11005146, 12548740 case 22 [12548740]   Edit
36 MCN_20020008-210 46, XX, del(7)(p13p15.1) de novo facies significantly abnormal, simian creases, abnormal cardiovascular structure/function, prenatal diagnosis, polydactyly of feet - postaxial/type unspecified p15.1 p13     MCN ID: 20020008-210 www.mcndb.org Edit
37 MCN_20020002-308 46, XY, t(3;7)(q26.2;p15.1) de novo mental retardation, gynaecomastia/b reast enlargement, hearing abnormal congenital/a cquired, visual loss - severe, small for gestational age (IUGR), synophrya/medial extension of eyebrow, seizures p15.1       MCN ID: 20020002-308 reported in Tonk et al. Am J Hum Genet. 2002;71(4):289, Program #741; www.mcndb.org Edit
38 18483359_1 arr 7p15.1(27,845,626-30,383,3 60)x3 metastatic melanoma p15.1 p15.1     18483359   observed in 27.3% of 19 patient samples; 2.5 Mb gain encompasses JAZF1, CHN2 Edit
39 3777028 46, XX, t(1;6;7;3;11)(11;22;21)(1qter->1p22::11p15-> 11pter; 6qter-> 6p21:: 1p22->1pter; 7qter-> 7p15:: 6p21-> 6pter; 3pter-> 3q27::7p15-> 7pter; 3qter-> 3q27 :: 11p15 -> 11q11::21q11-> 21qter; 22qter -> 22p11:11q11 -> 11qter; 21pter-> 21q11::22p11-> 22pter) de novo sclerocornea, corneal staphyloma, microcephaly, hirsutism, prominent ears with hypoplastic helix, retrognathia, wide-set nipples, hypoplastic thumbs, fifth finger clinodactyly, ectrodactyly of the left foot p15       3777028, 1327590 KCMC-90261   Edit
40 MCN_19990003-059 46, XY, inv(7)(p15q32) mat small for gestational age (IUGR), prenatal diagnosis p15 q32     MCN ID: 19990003-059 www.mcndb.org Edit
41 MCN_20010001-057 46, XX, t(2;7)(p13;p15) consanguineous marriage, microcephaly, speech defect, hearing abnormal congenital/a cquired, flat occiput (brachycephaly), short stature - postnatal p15       MCN ID:20010001-057 www.mcndb.org Edit
42 12596070 46, XX, t(7;17)(p15;q11), del(9)(q22), add(19)(q13) endometrial stromal sarcoma, pulmonary metastases p15       12596070   Mitelman Database, Reference No. 10015 Edit
43 14697643_16_1 46-48, X, del(X)(q22), t(1;7)(p22;p15), del(4)(q31), +7, +8, add(11)(p15), +12, del(14)(q22), add(15)(q24), add(16)(p13), add(17)(p12), -18, +20, -22 [cp19]/ 46, XX [1] Wilms tumor, stage IV p15       14697643 16 Mitelman Database, Reference No. 10418 Edit
44 12850374_4 46, XX, inv(2)(p21q37), der(6)t(6;7)(q21;p15)del(6)(p21), der(7)t(6;7)(?q12;p15) low-grade malignant endometrial stromal sarcoma, lung metastases p15       12850374 4 [in Addendum]   Edit
45 19672683 47,XYY, inv(7)(p15q36) de novo postaxial polydactyly type A, syndactyly 3-6 of both hands and feet, shortened ulna, overgown radialhead, left knee congenital flexion-contraction, webbing of the fossa poplitea, lateral patella luxation p15 q36 G248P81511A6/G 248P89547A12 G248P89016G3 19672683   bp on p arm lies within intron 1 of NFE2L3 Edit
46 17937435_2 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p14.1 p14.1 RP11-786M13/R P11-164E6 RP11-2J17/RP11-429N13 17937435 proband ~5.1 Mb deletion, localized on translocation derivative Chr. 7 Edit
47 1879832 46, XX, del(7)(p13p14) de novo Greig syndrome: developmental delay, preaxial polydactyly of toes, postaxial polydactyly of fingers, syndactyly of fingers & toes, macrocephaly, broad nasal bridge, broad thumbs, anterior anus p14 p13     1879832, 7521123, 9520255 case 3 [7521123], GM10609, MCN ID: 19910010-999, lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository; www.mcndb.org Edit
48 5489883 46, XX, inv(2)(p25q13), dup(7)(p13p14) de novo intentional tremor of extremities, congenital heart defect, congenital luxation of left hip, shortened left hip, very small stature, microcephaly, hypertelorism, mental retardation p14 p13     5489883, 4130027, 2679090, 2363431, 8839888, 9297445, 10494083 proposita (JP111153 ) [5489883], case 2 [9297445], case 12 [10494083]   Edit
49 7664288_44 LOH(7) prostate cancer p14 q31 D7S484/ D7S510 D7S523/ D7S486 7664288 44   Edit
50 14697643_12 46, XX, t(7;11)(p14;q24), der(16)t(1;16)(q21;q13) [20] Wilms tumor, stage II p14       14697643 12 Mitelman Database, Reference No. 10418 Edit
51 Maloney_ESHG2005_2_1 46, XY, ins(7)(p14q31q34) del(7)(q31q31) [cryptic del(7)(q35q35) was detected by FISH] mild to moderate learning difficulties, arrested hydrocephalus, short stature, small head p14       second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
52 NIGMS_GM11318 46, XX, t(1;7)(p34.1;p13) phenotypically normal, 1 spontaneous abortion at 11 weeks gestation p13       GM11318 lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository Edit
53 14506701_daughter 46, XX, t(7;22)(p13;q11.2) follicular lymphoma: stage IV p13   AC073115   14506701 daughter of second sister, cell line 1194 daughter of 14506701_sister2 Edit
54 MCN_19870002-041 46, XX, t(2;7)(q21;p13) short stature - postnatal p13       MCN ID: 19870002-041 www.mcndb.org Edit
55 MCN_19940002-049 46, XX, t(7;14)(p13;q24.1) scoliosis, mental retardation, shunt VSD/ASD/PDA, hypertelorism, up-slanting palpebral fissures, skin dimples/pits, short/small nose, short stature - postnatal, hypotonia p13       MCN ID: 19940002-049 www.mcndb.org Edit
56 2729360_mother 46, XX, t(6;7)(q27;p13) mat Greig syndrome - preaxial and postaxial heptadactyly of hands, preaxial hexadactyly of feet; thumbs and first metacarpals were broad and short; normal intelligence and stature; three spontaneous abortions, three malformed offsptings p13   SHGC-144106/ D7S691   2729360, 1650914, 1663489 mother (III-3) [2729360], RoH [1650914, 1663489], MCN ID: 19890022-999 RoH and III-3 are from the same family but may not be the same person; 10 of 13 indivisuals with t(6;7) in this family had Greig syndrome; www.mcndb.org Edit
57 2729360_sister 46, XX, t(6;7)(q27;p13) mat Greig syndrome - macrocephaly with prominent forehead and occiput, bilateral postaxial hexadactyly of hands, preaxial hexadactyly of the left foot, partial cutaneous syndactyly of hands, bilateral mild pes adductus, partial cutaneous syndactyly of feet, normal psychomotor and mental development p13   SHGC-144106/ D7S691   2729360, 1650914, 1663489 half-sister (IV-5) [2729360], RoH [1650914, 1663489], MCN ID: 19890022-999 RoH and IV-5 are from the same family but may not be the same person; 10 of 13 indivisuals with t(6;7) in this family had Greig syndrome; www.mcndb.org Edit
58 1483693 47, XX, + mar de novo [+der(7)t(X;5;7)(p22.1;q35;p13q21) detected by FISH] mental retardation, short stature, short palpebral fissures, convex/beaked profile of nose, small mandible/micrognathia, single palmar crease, high palate p13 q21     1483693 PL trisomy of p13-q21 Edit
59 17160895_186 del(7)(p13p13) cerebral cavernous malformation p13 p13 rs12667775/ rs12667371 rs11771107/ rs10085574 17160895 families 186, 224, 238, 249, 302, 307, 312, 3607 deletion spans exons 2-10 of CCM2; proximal breakpoint lies in intron 1 (19.4 kb proximal to exon 2) and distal breakpoint lies 19.2 kb distal to exon 10 of CCM2 Edit
60 16041583_4 46, XY, t(7;10)(p12.2;q26.3) pat [dup(10)(q21.1q23.31) detected by CGH] mental retardation, short stature, facial dysmorphism, obesity, micropenis, undescended testes, microcephaly, speech delay, delayed skeletal age p12.2   RP11-813K3   16041583 case 4 (PC) father had same translocation but not dup(10) Edit
61 19625284_3 46,XY,inv(3)(p24q24),t (5;7)(p15.1;p12.2).arr 3p24.3p25(15,780,358-15,940,6 42)x1 de novo,5p15.2(9,334,790-11,738,7 91)x1 de novo autistic disorder, moderate intellectual disability, macrocephaly, large stature, craniofacial dysmorphisms, systemic congenital anomalies, epilepsy p12.2       19625284 Subject 3   Edit
62 Schwartz_A0276 46, XY, der(3)t(3;7)(p26;p12) mat, 9qh+ microcephaly, turricephaly, hypertelorism, lowset and dysplastic ears, prominent and wide nasal bridge, heart murmur, unilateral cryptorchidism, decreased range of motion p12         Schwartz et al, abstarct, A0276 Edit
63 7065008_2 46, XY, t(7;20)(p12;q11) mat growth retardation, severe hypertonia with hyperactive reflexes, dilated cerebral ventricles with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia; feeding difficulty p12       7065008 patient 2 (GVHO92767); MCN ID: 19820006-999 phenotypically normal mother and maternal grandmother had same translocation; www.mcndb.org Edit
64 MCN_19800001-293 46, XY, t(4;7;15)(q21.1;p12;q26), del(11)(p12p14) hypospadias/e pispadias, mental retardation, aniridia, undescended/e ctopic testes, glaucoma/buphthalmos, short stature - postnatal p12       MCN ID: 19800001-293 www.mcndb.org Edit
65 MCN_19990002-037 46, X, t(X;7)(q13;p12) short stature - postnatal p12       MCN ID: 19990002-037 www.mcndb.org Edit
66 Unpublished_14287 46, XY, del(7)(p11.2p11.2) or 46, XY, 7ph+ PDD, repetitive behaviours (stacking blocks), frontal lobe seizures, orotic aciduria, hyper beta-alaninemia, mild receptive speech delay, asthma p11.2 p11.2     14287 unaffected mother has same deletion; karyotype is questionable; data unpublished Edit
67 8326501 46, XY, t(7;15)(p11.2;q11.2) mat congenital nystagmus; wife had multiple spontaneous abortions p11.2       8326501 IV-3 mother (III.2) had same translocation and congenital nystagmus, and maternal grandfather (II) and his father (I.1) had congenital nystagmus Edit
68 11140412_1 46, XX, der(13)t(7;13)(p11.1;p11) mat developmental delay, hypertelorism, flat nasal bridge and schisis, low-set malformed ears, postaxial polydactyly of the left hand, partial syndactyly of III and Iv fingers, abnormal positions of IV and V toes, large perimembraneous VSD, small ASD (type II), hypoplasia of the brain p11.1       11140412 patient 1 trisomy of 7p11.1-pter; mother had balanced t(7;13) Edit
69 7913578 46, XX, t(7;7)(7p7p;7q7q) short stature, growth retardation, slightly triangular-shaped face, hight arched and narrow palate, prominent occiput, slight limb asymmetry, small pituitary gland p11 q11     7913578, 11483637 proband isodisomy for paternal 7p and maternal 7q ; mother was a carier of inv(16)(p12.2q22) Edit
70 2225528_3_2 46, XY, der(2)t(2;7)(q37.3;q11.1), i(7)(p10) de novo patent ductus arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay p10       2225528, 7702099, 10494083 case 3 (BWIS#2074) [2225528], case 2 [10494083] trisomy of 7p Edit
71 2692511 46, XY, dup(7)(p11.2pter) de novo dolichocephaly, hypertelorism, microphthalmos, cataract, microstomia, rectus diastasis, omphalocele, small penis, cryptorchidism, no speech pter p11.2     2692511, 9297445, 10494083 case 5 [9297445], case 7 [10494083]   Edit
72 Pearson_A319 46, XY, dup(7)(p11-pter) large anterior fontanelle, hypertelorism, downslanting palpebral fissures, high arched palate, micrognathia, lowset ears, congenital heart defect, cryptorchidism, hypospadias, postaxial polydactyly, syndactyly, clinodactyly, absent toenails pter p11       Pearson et al, abstract, A319 Edit
73 8428043 46, XX, r(7) skin lesions, numerous melanocytic nevi, short stature, malignant melanoma pter qter     8428043     Edit
74 10594874_2 46, XY [293]/ 47, XY, +7 [56]/ 46, XY, r(7) [60]/ 47, XY, +7, r(7)[2] intrauterine growth retardation, short stature, moderate mental retardation, multiple minor anomalies, pigmentation anomalies pter qter     10594874     Edit
75 7172483 46, XX, r(7) [96]/ 47, XX, r(7), +r(7) [3]/ 46, XX, der(7)r(7) [1] short stature, systemic hypertension, wide-spaced nipples, slightly arched palate, skin lesions associated with cutis marmorata on abdomen and thighs, naevus flammeus on forehead and vertex, multiple pigmented naevi on all parts of the body pter qter     7172483, 3150243, 7172483, 2395166, 2189730, 1415332, 8362903, 10982483 SI [7172483], case 4 [8362903, 10982483]   Edit
76 1463018 46, XY, upd(7) mat short stature, growth retardation, retarded bone age pter qter     1463018, 10789928 ref. 27 [10789928] heterodisomy (meiosis l); homozygous for COL1A2 mutation Edit
77 2570528 46, XY, upd(7) mat cystic fibrosis, short stature pter qter     2570528, 10789928 ref. 29 [10789928] isodisomy Edit
78 2893543 46, XX, upd(7) mat cystic fibrosis, short stature, retarded bone age, hemihypotrophy, growth hormone deficiency pter qter     2893543, 2035541, 10789928 AB (III-1) [2893543], ref. 26 [10789928] isodisomy; mother (possibly), maternal mother, maternal aunt, and brother were heterozygous for CF mutation Edit
79 9272165_SR38 46, X?, upd(7) mat IUGR, short stature, relative macrocephaly, triangular face, klinodactyly V, squeaky voice, muscular hypotrophy, (psychomotor retardation) pter qter     9272165, 10789928 SR38 partial isodisomy/partial heterodisomy Edit
80 9272165_SR39 46, X?, upd(7) mat IUGR, short stature, relative macrocephaly, triangular face, klinodactyly V, psychomotor retardation, muscular hypotrophy pter qter     9272165, 10789928 SR39 complete heterodisomy Edit
81 9272165_SR8 46, XX, upd(7) mat IUGR, short stature, asymmetry, relative macrocephaly, irregular teeth, ear anomalies, clinodactyly V, brachydactyly V pter qter     9272165, 10789928 SR8 complete isodisomy Edit
82 10594874_1 46, XY [293]/ 47, XY, +7 [56]/ 46, XY, r(7) [60]/ 47, XY, +7, r(7)[2] intrauterine growth retardation, short stature, moderate mental retardation, multiple minor anomalies, pigmentation anomalies pter qter     10594874     Edit
83 7664288_19 LOH(7) prostate cancer         7664288 19   Edit
84 7664288_33 LOH(7) prostate cancer         7664288 33   Edit
85 7664288_51 LOH(7) prostate cancer         7664288 51   Edit
86 7664288_8 LOH(7) prostate cancer         7664288 8   Edit
87 7664288_12 LOH(7) prostate cancer         7664288 12   Edit
88 7664288_46 LOH(7) prostate cancer         7664288 46   Edit
89 7664288_6 LOH(7) prostate cancer   q31.3 D7S501/ D7S486 D7S522/ D7S480 7664288 6   Edit
90 7664288_26 LOH(7) prostate cancer pter p11.1     7664288 26   Edit
91 9603415_1 45, XY, -7 Shwachman-Diamond syndrome, myelodysplastic syndrome, short stature, growth hormone deficiency, recurrent diarrhea, loss of mineralization of distal femora pter qter     9603415, 9766504, 12472589 case 1 [9603415], 16 [9766504],   Edit
92 9603415_2_2 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency, metaphyseal chondroplasia developed marrow hypoplasia pter qter     9603415, 9766504, 12472589, 15474150, 16382447 case 2 [9603415], 15 [9766504], 3 [16382447]   Edit
93 9892108_143 46, XX [LOH(7)] invasive epithelial ovarian carcinoma     D7S518/ 7G14   9892108 143 primary tumor and metastatic tissue Edit
94 7514153_CEM/A7_2 91-104<4n>, XX, -X, -X, add(1)(p33), add(1)(q22), dup(7)(q11q31), del(8)(p10)x2, -9, add(9)(p12), der(9)del(9)(p10)inv(9)(p10q13)x2, +del(10)(p13), +13, -14, =15, -16, -18, +add(20)(q11), +21, +22, +5-9mar [cp5] T-cell leukemia, drug resistant pter qter     7514153, 8546902, 10198619 cell line CEM/A7   Edit
95 4018801_4 70-81, X, -X, -Y, del(1)(q?), add(7)(p?), del(10)(q24), inc solid and acinar carcinoma of prostate pter p10     4018801 4 Mitelman Database, Reference No. 1392 Edit
96 4018801_5 68, XXY, +X, +X, del(1)(q21), +del(1)(q31), +der(1)del(1)(p22)dup(1)(q12q?44), -2, del(2)(q21), -3, -4, -4, -5, i(4)(p10) or i(5)(p10), +6, +7, -8, -9, -11, -11, -12, -13, add(14)(q?), -15, -16, -17, -18, +20, add(21)(p?)x2, +7mar leiomyosarcoma of high grade of malignancy of prostate pter qter     4018801 5 Mitelman Database, Reference No. 1392 Edit
97 14697643_8 53-54, XX, +6, +7, +7, +8, +12, +19, +20, +22 [cp20] Wilms tumor, stage III pter qter     14697643 8   Edit
98 14697643_10 53-56, XX, del(1)(p22)x2, +6, +7, +8, +12, +13, +18, +18, +20 [cp3] Wilms tumor, stage III pter qter     14697643 10   Edit
99 14697643_16_2 46-48, X, del(X)(q22), t(1;7)(p22;p15), del(4)(q31), +7, +8, add(11)(p15), +12, del(14)(q22), add(15)(q24), add(16)(p13), add(17)(p12), -18, +20, -22 [cp19]/ 46, XX [1] Wilms tumor, stage IV pter qter     14697643 16 Mitelman Database, Reference No. 10418 Edit
100 12850374_1_2 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases pter p15     12850374 1 Mitelman Database, Reference No. 10210 Edit
101 8923948 47, X?, +7/ 46, X? 2 of 14 were small for gestational age; the rest were normal pter qter     8923948, 9106539 14 cases 14 pregnancies diagnosed by CVS; follow-up amniocentesis showed normal karyotype Edit
102 15172755 54, XXY, der(4)t(2;4)(?;q?31.3)t(4;11)(p16;?), der(5)t(5;10)(p13;?), +der(5)t(5;10)(q11.1;?), +del(7)(p?14), +der(9)t(3;9)(?p21;q12), der(10)t(10;11)(p?;?)t(10;15), der(11)(q23), der(11)t(11;15)(p11.1;q11.1), der(15)i(15q)del(15)(q22), +der(15)del(15)(q22)t(q10;q11)t(11;15)(?; ?p11.1), +der(15)t(15;17)(q11.2;?), +der(17)t(?15;17), del(18)(q?11.12) [representative SKY karyptype] glioblastoma pter p14     15172755 cell line U251 DNA copy number gain on 7p (standard CGH, array CGH and FISH) Edit
103 8922097_2 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, café-au-lait spots, pigmented naevi pter qter     8922097, 10982483 case 12 [10982483]   Edit
104 12599184_4 47, XY, +r(7) de novo developmental delay, therapy resistant seizures, no overt dysmorphic features pter qter     12599184, 15337469, 16007665 case 4 (00-1438) [12599184], case G [15337469], ref. 9 [16007665]   Edit
105 648176_cousin_1 46, XX, rec(7)dup(7q) inv(7)(p22q32) mat mental retardation, small stature, small hands and feet, small low-set ears, unable to rotate head, high arched palate, prognathism pter p22     648176, 7521123, 7390476 first cousin (III-2, Family G111WH) [648176], case 14 [7521123], case 13 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; first cousin of 648176_proposita Edit
106 10884806_2 68-72, XXX, +X, +X, +1, +3, -5, +7, -8, +9, -10, -12, +13, +der(13), +14, -15, +16, -18, -19, +20, +21, -22, +2mar [cp7] colorectal carcinoma, ovarian metastases pter qter     10884806 2 Mitelman Database, Reference No.8727 Edit
107 10884806_8 35-45, X, -X, -5, -6, del(6)(q23), -7, -8, -10, +add(11)(p?), +13, +der(13)x2, -14, -17, -18, -19, +20, dmin [cp11] colorectal carcinoma, ovarian metastases pter qter     10884806 8 Mitelman Database, Reference No.8727 Edit
108 10884806_10 36-44, XY, -4, -5, del(6)(q24), +7, -13, der(13), -14, -15, -17, -18, -19, -20, -21, -22, +r, +5mar [cp10] colorectal carcinoma, ovarian metastases pter qter     10884806 10 Mitelman Database, Reference No.8727 Edit
109 10884806_17 39-46, XY, +Y, +Y, add(1), -2, -5, +7, -9, -10, -12, -17, -18, -19, -20, -22, +mar [cp10] colorectal carcinoma, ovarian metastases pter qter     10884806 17 Mitelman Database, Reference No.8727 Edit
110 10884806_19 58-74, XX, -X, +der(1), +2, -3, -4, -5, -6, -7, -8, -9, -12, der(13), +der(13;13), -14, -15, -16, -17, -18, -19, -20, -21, -22, +4-13mar [cp9] colorectal carcinoma, ovarian metastases pter qter     10884806 19 Mitelman Database, Reference No.8727 Edit
111 10884806_20 44-56, XX, -1, der(1)(p?), der(1)(q?), +2, +3, add(6)(q?), +7, -8, +11, -13, -15, -17, +19, +20, +21, +22, +2-3mar [cp4]/ 59-71, XX, -X, del(1)(p?), der(1)(p?), der(1)(q?), -4, -5, -6, +7, -8, -10, -11, -13, -14, -15, -16, -17, -18, +19, +21, +5-7mar [cp7] [a: right ovary]
39-53, XX, +1-3mar [cp3]/ 59-74, XX, -X, del(1)(p?), der(1)(p?)x2, der(1)(q?)x2, -4, -5, +6, +7, -8, -9, -10, -12, -13, -14, -15, +16, -17, -18, +19, +21, +22, +5-8mar [cp7] [left ovary]
colorectal carcinoma, ovarian metastases pter qter     10884806 20 Mitelman Database, Reference No.8727 Edit
112 10884806_22 50-57, XX, +X, +X, +1, add(3)(q?), +7, +10, +13, +13, +15, +17, +17, +18, +21, +22/59-61, XXX, -3, add(3), -9, -11, +13, -18, -20 [cp4] colorectal carcinoma, ovarian metastases pter qter     10884806 22 Mitelman Database, Reference No.8727 Edit
113 ECACC_5060327 46, XY, der(9)t(7;9) mental retardation, dysmorphic features, short stature pter qter     5060327 (cell line: IS2260) www.ecacc.or.uk Edit
114 9855612 48, XY, +4, +7 [20] phenotype not given - mother had incomplete abortion at the gestational age was 8~9 weeks [detected ultrasound] pter qter     9855612 abortus mother was 42 years old Edit
115 2235900_1 46, XY [CVS, direct]
47, XY, +7 [34%]/ 46, XY [66%] [CVS, culture]
47, XY, +7 [placenta, culture]
fatal demise detected by ultrasound at 15.5 weeks of gestation pter qter     2235900 case 1 (2061-88)   Edit
116 3799715 47, XX, +7 [34]/ 46, XX [28] [CVS]
46, XX [100] [skin & umbilical cord]
phenotype not given; pregnancy was terminated at 10 weeks of gestation pter qter     3799715     Edit
117 Martin_ACMG2008_3 arr (7q)x1 mild dysmorphic features, short stature, mild developmental delay, severe velopharyngeal insufficiency         Case 3 Martin et al., ACMG2008, Program #14, ~8.8Mb deletion, discussion of KCNH2 and PRKAG2 as candidate genes Edit
118 18795325 47,XY,+7 end-stage kidney disease pter qter     18795325   observed in 6 of 11 cases Edit
119 19480332 46,XX,der(2)t(2;7)(p23;p13)mat severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, hypertelorism, strabismus, nystagmus, broad nasal bridge, rounded nasal tip with anteverted nares, low-set ears, long philtrum, micrognathia, partial cleft palate, short webbed neck, broad distal digits, abnormal palmar creases, joint contractures, cardiovascular anomaly pter p13     19480332 proband mother has balanced translocation Edit
120 21204802_2 Prenatal:46,X Y; Postnatal skin fibroblasts:46,XY[12]/47,X Y, +7[8],upd(7) mat Russell–Silver syndrome, low-set posteriorly rotated ears, hypopigmentedskin, developmental delay, inferior limbsasymmetry pter qter     21204802   Maternal heterodisomy for long arm and proximal short arm, distal short arm showed maternal isodisomy Edit
121 Unpublished_2 4?, XY, del(7)(q?) speech delay, easily distracted, dwarf like stature,webbed fingers/toes, large simple ears q10 qter     2 data unpublished Edit
122 9603415_2_1 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency, metaphyseal chondroplasia developed marrow hypoplasia q10       9603415, 9766504, 12472589, 15474150, 16382447 case 2 [9603415], 15 [9766504], 3 [16382447]   Edit
123 9637427 46, XY, i(7)(q10) Shwachman-Diamond syndrome, severe intermittent neutropenia, moderate thrombocytopenia, exocrine pancreatic dysfunction, duplication of distal thumb phalanx q10       9637427, 9766504, 16382447 case 1 [9766504], 2 [16382447] Mitelman Database, Reference No. 7739 Edit
124 14697643_1 46, XY, i(7)(q10) [9]/ 46, XY [11] Wilms tumor, stage III q10       14697643 1 Mitelman Database, Reference No. 10418 Edit
125 14697643_2 46, XX, i(7)(q10) [3]/ 46, XX [12] Wilms tumor, stage III q10       14697643 2 Mitelman Database, Reference No. 10418 Edit
126 7664288_10 LOH(7) prostate cancer q11 q31.31   D7S486/ D7S522 7664288 10   Edit
127 7514153_CEM/A5 93-98<4n>, X, -X, -X, del(X)(p22), add(1)(p22), hsr(1)(p22), -2, +der(2)del(2)(p23)add(2)(q23), del(3)(p21), add(3)(p12), add(4)(p16), del(5)(p12), -7, der(7)ins(7;?)(q11;?), -8, del(8)(p10)x2, -9, add(9)(p12), der(9)del(9)(p10)inv(9)(p10q13)x2, +13, -14, -16, +17, -18, add(19)(q13), +3-8mar [cp8] T-cell leukemia, drug resistant q11       7514153 cell line CEM/A5   Edit
128 MCN_19890001-003 46, XY, t(3;7)(q21;q11) facies significantly abnormal, ectropion, talipes - varus/valgus, short stature - postnatal, down-slanting palpebral fissures q11       MCN ID: 19890001-003 www.mcndb.org Edit
129 MCN_19950001-061 46, XX, t(5;7)(q22;q11) hypogonadism/d elayed puberty, tall stature q11       MCN ID:19950001-061 www.mcndb.org Edit
130 MCN_19830002-041 46, XX, t(7;12)(q11;q13) short stature - postnatal q11       MCN ID: 19830002-041 www.mcndb.org Edit
131 12850374_1_3 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases q11       12850374 1 Mitelman Database, Reference No. 10210 Edit
132 12850374_3 45, XX, add(3)(p11), der(9)t(7;9)(q11;p24), del(10)(q11q26), t(10;17)(q22;p13), der(11)t(3;11)(p22;q22), -13 low-grade malignant endometrial stromal sarcoma, omentum metastases q11       12850374 case 3 Mitelman Database, Reference No. 10210 Edit
133 1377005_6_1 45-46, XY, der(1)t(1;8)(p22;q13)dup(1)(q21q25), der(2)t(2;6)(p16;p12), del(6) (p12), +t(7;20)(q11;p12), der(8)t(1;8), der(10)t(4;10)(q11;q23), add(13)(p13), -17/ 46-48, XY, t(1;4)(p34;q35), dup(1), der(2), add(3)(q21), del(6), dup(7) (q22q32), +dup(7), t(7;20), der(10), add(13) prostate cancer q11       1377005 6 Mitelman Database, Reference No. 4067 Edit
134 2225528_3_1 46, XY, der(2)t(2;7)(q37.3;q11.1), i(7)(p10) de novo patent ductus arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay q11.1       2225528, 7702099, 10494083 case 3 (BWIS#2074) [2225528], case 2 [10494083] trisomy of 7p Edit
135 12454746_INS 48, XY, ins(12;7)(p13;q36q11.1), +13, +19 acute myeloid leukemia q11.1 q36     12454746 INS breakpoint at 7q36 is distal to HLXB9; Mitelman Database, Reference. No. 9949 Edit
136 10970193 46, XX, der(15)t(7;15)(q11.2;p11.2) multiple congenital anomalies, bilateral hip dislocation, low set malformed ears, micrognathia, small mouth, high arched palate, hypertelorism, pulmonary hypoplasia, increased intermammary distance, malformed hands, died six hours after birth q11.2       10970193, 12407716, 12818530   trisomy 7q11-7qter; de novo or pat Edit
137 MCN_19890001-050 46, XY, t(7;13)(q11.2;q11.4)inv, t(7;13) facies significantly abnormal, mental retardation, short stature - postnatal q11.2       MCN ID: 19890001-050 karyotype does not follow ISCN; www.mcndb.org Edit
138 23650183 4?,XY.arr 7q11.2(69,070,983-69,827,8 66)x1 de novo [hg18] developmental delay, intellectual disability, hypotonic and fed poorly from birth, tongue tie, short stature, ptosis, mildtremor, heartshaped face, high broad forehead with bilateral cowlicks, soft fine hair, large front teeth, extra teeth in the upper jaw, prominent and slightly posteriorly rotated ears, mild micrognathia,a rched eyebrows, shawl scrotum q11.2 q11.2 AUTS2 (exon3) AUTS2 (exon6) 23650183   ~683–806 kb deletion Edit
139 ECACC_99072145 46, XY, t(3;7)(p21.3;q11.21) IUGR, distal arthrogryposis, central hypoventilation q11.21       99072145 (cell line: LQ0001) www.ecacc.or.uk Edit
140 1773535_3 46, XY, t(7;9)(q11.21;;p12) fixed flexion at the distal interphalangeal joint of the 4th fingers of both feet, hearing loss, lost his light of his right eye at 23 years of age q11.21       1773535 patient 3 (II-2) grandfather of 1773535_1, father of 1773535_2 Edit
141 3376995 46, XY, del(7)(q11.22q21.1) hoarse cry, hypertonia, heart murmur, abnormal facial appearance, abnormal electroencephalogram, bilaterally dislocated hips, spina bifida occulta, mental retardation, seizures, severe scoliosis, cortically blind, deaf, iris colobomata, cleft palate q11.22 q21.1     3376995, 1456281 case 8 [1456281] manifestations was similar to mucopolysaccharidosis type VII, but patient had normal activity of beta-glucuronidase Edit
142 7160842_2 46, XX, dup(7)(q11.22q11.23)inv(7)(q11.23q22) mat huge head, left sided anopththalmia, high arched palate, excessive hydrocephalus with almost inappreciable brain substance, genital anomalies q11.22 q11.23     7160842, 6392555, 3491573, 3546078, 7717416, 11531975 N.S. [7160842], ref. 21 6392555] mother had inv(7) Edit
143 8541862 46, XY, del(7)(q11.23q11.23) [not visible] severer supravalvular aortic stenosis (SVAS), peripheral pulmorary artery stenosis, no WBS phenotype q11.23 q11.23 ELN ELN 8541862, 12952863 proband (III-1) [8541862], SVAS 1 [12952863] proximal breakpoint was in intron 1 of ELN, and distal bp was in intron 27 of ELN; mother (II-2) was obligate carrier and had heart murmuur and non-diagnositc ECG Edit
144 7160842_1 46, XX, dup(7)(q11.22q11.23)inv(7)(q11.23q22) mat huge head, left sided anopththalmia, high arched palate, excessive hydrocephalus with almost inappreciable brain substance, genital anomalies q11.23 q22     7160842, 6392555, 4040824, 3491573, 3546078, 7717416 N.S. [7160842], ref. 21 6392555] mother had inv(7) Edit
145 7514153_CEM/A7_1 91-104<4n>, XX, -X, -X, add(1)(p33), add(1)(q22), dup(7)(q11q31), del(8)(p10)x2, -9, add(9)(p12), der(9)del(9)(p10)inv(9)(p10q13)x2, +del(10)(p13), +13, -14, =15, -16, -18, +add(20)(q11), +21, +22, +5-9mar [cp5] T-cell leukemia, drug resistant q11.23 q31.2 D7Z1/ D7S2512 D7S2860/ D7S471 7514153, 8546902, 10198619 cell line CEM/A7 Edit
146 10710222_1 46, XX, t(6;7)(q27;q11.23) de novo; WBSinv-1 [pat, detected by FISH] atypical Williams syndrome, severe cardiovascular manifestations, died shortly after birth q11.23   ELN   10710222, 11685205 11719 [11685205] healthy father (11976) had WBSinv-1; breakpoint was mapped ot 5 end of ELN Edit
147 10710222_2 46, XX, t(6;7)(q27;q11.23) de novo. WBSinv-1 [pat, detected by FISH] atypical Williams syndrome, severe cardiovascular manifestations, died shortly after birth q11.23 q11.23 D7S672/ D7S2479 D7S1870/ D7S715 10710222, 11685205 11719 [11685205] healthy father (11976) had WBSinv-1; inversion breakpoints occurred within duplicons Edit
148 MCN_19900004-029 46, XX, inv(7)(q11.23q22) small hand, short neck, epicanthic folds, generalised obesity, short stature - postnatal q11.23 q22     MCN ID: 19900004-029 www.mcndb.org Edit
149 MCN_19880001-035_1 46, XX, t(7;13)(q11.23;q14.3), inv(7)(q11.23q21.1) de novo ptosis, epicanthus inversus, abnormal ear shape/structure, other eye globe abnormalities, low set ears, short stature - postnatal q11.23       MCN ID: 19880001-035 www.mcndb.org Edit
150 MCN_19880001-035_2 46, XX, t(7;13)(q11.23;q14.3), inv(7)(q11.23q21.1) de novo ptosis, epicanthus inversus, abnormal ear shape/structure, other eye globe abnormalities, low set ears, short stature - postnatal q11.23 q21.1     MCN ID: 19880001-035 www.mcndb.org Edit
151 16470794_2 46, XX, del(7)(q31.2q32.2)(D7S486-, D7S522-) de novo, WBS inv-2 speech-language disorder (developmental verbal dyspraxia), autism-like, dysmorphic features, mild developmental delay, unable to cough/sneeze/l augh spontaneously q11.23 q11.23 LIMK1/ CYLN2 HIP1/ POR$ 16470794, 17033973 13583; patient 4 [17033973] phenotypically normal father was mosaic for WBS inv-2; paternal first cousin had WBS with standard 7q11.23 microdeletion; Zeesman et al., ASHG2004, Program #738 Edit
152 16328081 46, XX, t(7;9)(q11.23;p24.3) mat phenotypically normal; six spontaneous pregnancy interruptions q11.23   AC005049   16328081 index case mother and two sons had same translocation; breakpoint lies in the 8-kb region distal to FKBP6 Edit
153 12566524_1 46, XX, del(7)(q11.23q11.23) [assumed] Williams syndrome (high functioning), midsystolic murmur in the aortic area q11.23 q11.23 D7S1816/ FKBP6 NCF1$ 12566524 case 1 (WBS-223) distal breakpoint lies between exon 2 and exon 6 of NCF1 Edit
154 15994861_CO3 46, XY, del(7)(q11.23q11.23) [assumed] Williams syndrome, supravalvular aortic stenosis (SVAS), peripheral pulmonary stenosis (PPS), unusual cognitive profile (no visuospatial impairment), mild facial WBS features, short stature, IQ of 83 q11.23 q11.23 WBSCR17/ BAZ1B RFC2/ CYLN2 15994861 CO3 proximal breakpoints lies in centromeric LCR in WBS region; distal breakpoint lies 12.3 to 25.3 kb proximal to exon 1 of CYLN2 Edit
155 15994861_IM3 46, XX, del(7)(q11.23q11.23) [assumed] Williams syndrome, mild systolic hypertension q11.23 q11.23 WBSCR17/ BAZ1B RFC2/ CYLN2 15994861 IM3 proximal breakpoints lies in centromeric LCR in WBS region; distal breakpoint lies in the region encompassing the promoter and the first three exons of CYLN2 Edit
156 17075606 46, XX [dup(7)(q11.23q11.23) de novo detected by array CGH] psychomotor development delay, mild to moderate mental retardation, severe speech dyspraxia, short stature, right cubitus valgus, club feet, hip dysplasia, round face with stocky & short neck, low-set posteriorly rotated ears, short philtrum, thin lips q11.23 q11.23 Williams_Duplicon_1 Williams_Duplicon_2 17075606     Edit
157 21980823_MK 46,XY,del(7)(q11.23q11.23) Asperger's, Williams syndrome, ADHD, thick lips, epicanthal folds, flat nasal bridge, dysplastic ears, narrow high palate, short stature, bilateral position abnormality in the 2nd and 3rd toes, Sydney line in left hand, clinodactyly q11.23 q11.23     21980823 MK   Edit
158 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32     458833, 7228036, 6758992, 7154049, 3879441, 2301476, 11045577 case 1 [458833], case 11 [6758992], ref. 4 [7154049], ref. F [ 2301476]   Edit
159 DGAP055 46, XY, t(7;9)(q21;p23) developmental delay (esp. expressive language delay), short stature, microcephaly, mild facial dysmorphism q21       DGAP055 http://www.bwhpathology.org/d gap/ Edit
160 3070043_11 46, XX, der(9)t(7;9)(q21;p24) pat low birth-weight, short stature (prenatal onset), scaphocephaly, asymmetrical skull, trigonocephaly, microcephaly, delayed closure of/large fontanelle, generalized hirsutism, high frontal hairline, high forehead with frontal bossing, low-set ears, attached ear lobule, hypertelorism, prominent eyes, arched eyebrows, palpebral fissures slant down, depressed/flat nasal bridge, flat face, low posterior/trident hairline, short neck, kyphosis, scoliosis, wide spaced nipples, hypertrophy of labia minora, single palmar crease, skin syndactyly of fingers; died on Day 11 after birth q21       3070043 case 11 trisomy of 7q21-qter Edit
161 23418071_4 4?,XY,del(7)(q21) early onset myoclonus-dystonia, moderate left sensory-neuralhearing loss, short stature, facial dysmorphism q21 q21     23418071 patient 4 ~5.9 Mb deletion inlcuding SGCE Edit
162 24341144 46,XY, dup(7)(q21q22.2).ish dup(7)(q21 q22.2)(wcp7+, ELN+, D7S2686++, D7S486+)dn mental disability, marked speech delay, mild short stature, frontal bossing, and mild dysmorphisms q21 q22.2     24341144 propositus   Edit
163 11424924 46, XX, del(7)(q21.1q21.3) de novo mental & developmental retardation, partial deficiency of growth hormone secretion, ectrodactyly of the right foot, submucous cleft palate, congenital vertical talus, malformations of the middle ear, profound sensorimeural hearing loss, hypertelorism, depressed nasal bridge, large biparietal diameter, hypopigmented retina, micrognathia, carious primary teeth, hypodontia, sparce light hair, cryptorchidism, joint laxity, hypodontia, short stature, Mondini dysplasia, facial dysmorphism, q21.1 q21.3 rs801856 rs951987 11424924, 15732063, 17898012 17898012_Patient 3   Edit
164 9815935_T2 LOH(7q) prostate cancer q21.1 - 31.31 ?qter D7S440/ MET$   9815935 T2   Edit
165 9815935_T4 LOH(7q) prostate cancer q21.1 - 31.32 ?qter D7S440/ D7S480   9815935 T4   Edit
166 9815935_T12 LOH(7q) prostate cancer q21.1 - 31.31 ?qter D7S440/ D7S486   9815935 T12   Edit
167 9815935_T32 LOH(7q) prostate cancer q21.1 - 31.31 ?qter D7S440/ D7S522   9815935 T32   Edit
168 9815935_T33 LOH(7q) prostate cancer q21.1 - 31.31 ?qter D7S440/ D7S486   9815935 T33   Edit
169 9815935_T51 LOH(7q) prostate cancer q21.1 - 31.31 ?qter D7S440/ D7S486   9815935 T51   Edit
170 18483359_2 arr 7q21.1(84,987,863-87,283,6 35)x3 metastatic melanoma q21.1 q21.1     18483359   observed in 27.3% of 19 patient samples; 2.3Mb gain encompasses DMFT1, ABCB1 Edit
171 24124006 46,XY.arr 7q21.11(83,659,338-83,809,2 70)x1 pat [hg18] short stature, skeletal anomalies of the thorax, congenital heart defect, camptodactyly, motor development delay, barrel chestwith prominent sternal plate, low-set, backwards rotated ears, epicanthal folds, thin eyebrows, broad nasal root, prominent nasal tip with flaring nares, long philtrum, small mouth,retractedchin, wide fontanels, small sacraldimple, small hemangioma,i nverted left nipple, fetal toe pads, tapering of fingers, broad thumbs, short neck, kyphosis, hyperlordosis q21.11 q21.11     24124006   ~150 kb deletion; discussion of SEMA3A as candidate gene Edit
172 8023840_D2 46, XY, del(7)(q21.12q22.1) normal hands, bilateral split foot, mental retardation, microcephaly, coloboma, short stature, seizures q21.12 q22.1 HGF/ PGY1 D7S618/ D7S651 8023840, 7987313, 8782053 D2 [8023840, 7987313], ref. 16 [8782053]   Edit
173 12900898 46, XY, del(7)(q21.2q21.3) de novo myoclonus dystonia syndrome (MDS): myoclonus, microcephaly, short stature, mildly dysmorphic facies, language delay, developmental delay q21.2 q21.3 AC004862/ CACNA2D1 SGCE/ D7S821 12900898, 18565486 case 28 [18565486] ~12-14 Mb deletion, e-sarcoglycan deletion Edit
174 DGAP132 46, XX, t(5;7)(q12.2;q21.2) mat developmental delay, learning disabilities, mild malar hypoplasia, outer canthal distance at 97th percentile, inner canthal distance at 80th percentile, otherwise no dysmorphic features. Mother shares learning disabilities with subject, finished 12th grade with special education, difficulty with reading and writing. q21.2       DGAP132 http://www.bwhpathology.org/d gap/ Edit
175 MCN_19990009-292 46, XY, t(1;7)(p32.1;q21.2) mental retardation, tall stature q21.2       MCN ID: 19990009-292 www.mcndb.org Edit
176 MCN_19820001-037 46, XX, t(6;7)(q16.2;q21.2) de novo mental retardation, microcephaly, nystagmus, paresis of ocular muscles/squint, short stature - postnatal q21.2       MCN ID: 19820001-037 www.mcndb.org Edit
177 Benke_ASHG2003 46, XY, del(7)(q21.2q21.3) pat IUGR, short stature, growth hormone deficiency, partially empty sella, microcephaly, moderate mental retardation, deafness, facial features resembling Seckel Syndrome q21.2 q21.3       deleted region extended from D7S1813 to D7491; Bebke et al., ASHG 2003, Program #604 Edit
178 6114032_10 46, XY, inv(7)(q21.2q31), del(11)(p13p14) de novo aniridia, glaucoma, corneal clouding, nystagmus, ambiguous genitalia, micropenis, hypospadias, small scrotum, mental retardation? q21.2 q31     6114032 case 1 (ESC, TGH 622 644) [Riccardi et al, 1980], patient 10 [6114032] first reported by Riccardi et al, 1980, Cancer Genet Cytogenet.2: 131-137 Edit
179 17898012_1 46,XX,del(7)(q21.2q21.3) myoclonus onset age 1.5, myoclonus of neck and upper limbs, dystonia onset in infancy, dystonia of neck and upper limbs, joint laxity, 3 bone fractures with significant trauma, short stature, slight hearing loss, q21.2 q21.3 rs7783452 rs17166512 17898012 Patient 1   Edit
180 17898012_2 46,XX, del(7)(q21.2q21.3) myoclonus (generalized) onset age 5, dystonia of neck and upper limbs onset at 13 mo, CCM type IV lesions, Blue sclerae/joint laxity, 2 bone fractures with sufficient trauma, short stature, q21.2 q21.3 rs7781521 rs854726 178980121 Patient 2   Edit
181 18841024 46,XY,del(7)(q21.2q31.1) fetal growth restriction, cardiomegaly, hypertelorism, wide nasal bridge, low-set ears, cleft palate, prominentcheeks, prominent nuchal skin, simian crease and lower extremitypostaxial polydactyly type A q21.2 q31.1     18841024 22 week fetus paternal karyotype 46,XY,der(11)ins(11; 7)(p15.1;q31.1q21.2) with normal phenotype Edit
182 DGAP115 46, XX, inv(7)(q21.3q35) mat micrognathia, abnormal pinnae (overfolded helices, subjectively small), bilateral conductive hearing loss, describes stature as chubby and tall q21.3 q35 RP11-879E11 RP11-643A21 DGAP115 (proband, mother) daughter of DGAP116, mother of DGAP117, DGAP118, and DGAP 119; breakpoint at 7q35 was 67 and 80 kb proximal to DLX6 and DLX5, respectively; http://www.bwhpathology.org/d gap/; Kocher et al., ASHG 2004, Program #900; ASHG 2005, Program #767 Edit
183 11531975 46, XX, inv dup(7)(q21.3q35) de novo short stature, psychomotor retardation, muscular hypotonia, seizures, dysmorphic features, congenital heart defect, high arched cleft palate, micrognathia, strabismus q21.3 q35     11531975     Edit
184 1877619_T2_1 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development q21.3 (T2.1) q21.3 (T2.2) GS1-310A5 stSG48566/ RH36420 1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment T2.1 - T2.2 translocated onto der(9); two breakpoints(T2.1 & T2.2) located within the smallest region of overlap (SRO) and a third (T2.3) distal to the SRO for SHFD1; www.mcndb.org Edit
185 1877619_T2_2 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development, ectrodactyly q21.3 (T2.2) q22.1 (T2.3) stSG48566/ RH36420   1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment of T2.2 - T2.3 translocated onto der(9); two breakpoints(T2.1 & T2.2) located within the smallest region of overlap (SRO) and a third (T2.3) distal to the SRO for SHFD1; www.mcndb.org Edit
186 MCN_19940001-032_1 46, XX, ins(7)(q21.3q22q31.1) pat cleft hard palate, GH-deficiency, Hearing abnormal congenital/a cquired, small for gestational age (IUGR) q21.3       MCN ID: 19940001-032 www.mcndb.org Edit
187 7664288_47 LOH(7) prostate cancer q22   D7S482/ D7S515   7664288 47   Edit
188 Aoki_1977 46, XY, der(9)t(7;9)(q22;p24) mat brachycephaly, antimongoloid slant, exophthalmus, prominent nasal bridge, micrognathia, high arched palate, low set and malformed ear, rocker bottom foot, joint limitation and inability to fully extent of limbs, hypertonia, short stature and developmental retardation q22       11536263   trisomy of 7q22-qter; reported in Aoki et al.: Jap. J. Human Genet, 1997, 22: 164-5 Edit
189 4018801_1 44, X, -Y, del(1)(p22), del(1)(p13), der(2)t(?1;2)(q12;p21), +der(2)t(?1;2)(q12;p13), +i(3)(q10), -5, der(6)t(2;6)(q11;q13), +del(7)(q22), -9, +del(10)(q24), +hsr(10)(q22), -15, -16, -17, -18, -20, +21 poorly differentiated adenocarcinoma of prostate q22 qter     4018801, 8330268 1 [4018801], 5 [8330268] Mitelman Database, Reference No. 1392 Edit
190 4018801_2 57, X, -Y, add(1)(p?), del(7)(q22), del(10)(q24), inc moderately differentiated adenocarcinoma of prostate q22 qter     4018801, 8330268 2 [4018801], 6 [8330268] Mitelman Database, Reference No. 1392 Edit
191 4018801_3 64, X, -X, -Y, -1, der(1)add(1)(p?)del(1)(q?), -2, -5, -6, del(7)(q22), -9, +del(10)(q24), -11, -11, -13, -15, -16, -17, -18, +19, -21, -22, +9mar undifferentiated carcinoma of prostate q22 qter     4018801, 8330268 3 [4018801], 7 [8330268] Mitelman Database, Reference No. 1392 Edit
192 6644769 46, XY, t(1;7)(q42;q22), t(5;9)(q31;q32), t(13;16)(q21;q22) de novo short stature, delayed bone age, speech delay q22       6644769 9-year-old boy father had marker chr. 5ph+ (origin of der(5) in the child?), mother had marker chr 13ps+ Edit
193 MCN_19940001-032_2 46, XX, dir ins(7)(q21.3;q22q31.1) pat cleft hard palate, GH-deficiency, Hearing abnormal congenital/a cquired, small for gestational age (IUGR) q22 q31.1     MCN ID: 19940001-032 www.mcndb.org Edit
194 MCN_19860002-311 46, XX, t(7;13)(q22;q34) de novo torticollis, small for gestational age (IUGR), clinodactyly of 5th finger, short stature - postnatal, seizures q22       MCN ID: 19860002-311 www.mcndb.org Edit
195 1377005_5 47, XXYc, der(1)inv(1)(p31q44)add(1)(p31), t(3;6)(p12;q23), del(7)(q22)/ 46,XXc, -Y prostate cancer q22 qter     1377005 5 Mitelman Database, Reference No. 4067 Edit
196 1377005_6_2 45-46, XY, der(1)t(1;8)(p22;q13)dup(1)(q21q25), der(2)t(2;6)(p16;p12), del(6) (p12), +t(7;20)(q11;p12), der(8)t(1;8), der(10)t(4;10)(q11;q23), add(13)(p13), -17/ 46-48, XY, t(1;4)(p34;q35), dup(1), der(2), add(3)(q21), del(6), dup(7) (q22q32), +dup(7), t(7;20), der(10), add(13) prostate cancer q22 q32     1377005 6 Mitelman Database, Reference No. 4067 Edit
197 1377005_7 39-43, XY, ins(1;?)(p32;?), t(1;16)(q21;q22), add(3)(p13), -4, -5, del(6)(p21), dup(7)(q22q32), del(8)(p21), del(10)(q24), +der(11)t(3;11)(p21;p13)ins(11;?)(q14-21; ?), -13, -17, add(18)(q21), +1-4mar/ 82-89, idemx2/ 142-156, idemx4, inv(6)(q15q21), der(12)t(1;12)(q25;q13), add(19)(p13), inc/ 211-291, idemx6 prostate cancer q22 q32     1377005 7 Mitelman Database, Reference No. 4067 Edit
198 16364762_49 65-71, -X, -Y, +add(1)(p11), t(1;1)(p10;p10), +3, der(4)del(4)(p11)hsr(4)(p11), -5, -5, +der(6)t(5;6)(q15;q13), +dup(7)(q22q23), +add(8)(p21), der(8;14)(q10;q10), -9, -9, -10, +add(11)(p13), der(11)add(11)(q13)hsr(q13)x2, der(11;15)(q10;q10), -12, -13, i(13)(q10)x2, -14, i(14)(q10), add(15)(p11)x2, -16, add(17)(p11), -18, -18, -18, -19, -19, -21, -21, i(21)(q10), inc [cp5] squamous cell carcinoma of the oral cavity - metastasis q22 q23     16364762 49 Mitelman Database, Reference No. 11284 Edit
199 21665179 46,XX,t(2;7)(p11;q22)[9]/46,X X[21] monoclonal B-cell lymphocytosis q22   cos130a6   21665179   breakpoint 520 bp upstream of transcription start site for CDK6 Edit
200 7390477 46, XX, del(7)(q22.1q31.3) de novo motor and mental developmental delay, difficulty in swallowing, thin ear cartilage, unusual cry, short distal phalanges, clitoral hypertrophy, abnormal pupils q22.1 q31.3     7390477, 7228036, 6758992, 7154049, 3879441, 2301476 case 12 [6758992], ref 5 [7154049], ref. H [2301476], MCN ID: 19770002-286 www.mcndb.org Edit
201 1877619_T2_3 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development, ectrodactyly q22.1 (T2.3) q31.3 (T2.4)     1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment of T2.2 - T2.3 translocated onto der(9) (inverted); two breakpoints(T2.1 & T2.2) located within and a third (T2.3) distal to the smallest region of overlap (SRO) for SHFD1; www.mcndb.org Edit
202 ECACC_92102359 46, XY, inv(7)(q22.1q34) mat myelodysplasia q22.1 q34 rs6960789/ rs10279959 rs3801001/ rs12667738 8611680, 11328294 92102359 (cell line: DD1027) 190 bp (distal to distal inversion breakpoint and within rs12667738) was deleted; mother has inv(7); www.ecacc.or.uk Edit
203 9760201_2_1 46, XY, inv(7)(q22.1q32.1) [cryptic del(7)(q22.1)] mental retardation, development delay, short stature, microcephaly, dysmorphic features q22.1 q32.1     9760201, 15017330 patient 2 [9760201], MN [15017330]   Edit
204 9760201_2_2 46, XY, inv(7)(q22.1q32.1) [cryptic del(7)(q22.1)] mental retardation, development delay, short stature, microcephaly, dysmorphic features q22.1 q22.1 RP11-405I2/ RP11-136B3 RP11-333G13/ RP11-163E9 9760201, 15017330 patient 2 [9760201], MN [15017330] deletion was ~3.1Mb, containing approximately 70 genes Edit
205 8135285 46, XY, dup(7)(q22q34) de novo autism, growth and mental retardation, developmental delay, no speech, frontal and parietal bossing, deep-set eyes, starbismus, bilateral optic nerve hypoplasia, mild dilatation of the cerebral ventricles q22.3 q35 RP11-361C14/ RP11-89M2 RP4-669B10/ RP11-79M8 8135285, 11531975, 12818530 26294 [unpublished] molecular data unpublished Edit
206 19161136 46,XY,der(21)t(7;21)(q32;q22.3)mat Silver–Russell syndrome, hypogammaglobulinemia, bilateral inguinal hernia, subcostal retractions,b ilateral crackles, perimembranous ventricular septal defect, prominent forehead, triangular face, large fontanelle,l ow-set ears, small mouth, thin upper lip, high archedpalate, strabismus, bilateral single palmer transverse crease, kyphoscoliosis,l imb asymmetry, clubfoot q22.3       19161136   mother had three miscarriages and is carrier of translocation Edit
207 3879441 46, XY, del(7)(q23q32) de novo hypotonia, microcephalia, difficulty in swallowing, low-set dysplastic ears, unusual cry, upslanting and small palpebral fissures, scaphocephaly, micrognathia, epicanthal folds, hypertelorism, hypoplastic orbital bones, small penis, diastasis recti, hypoplastic pulmonary artery, probably deaf q23 q32     3879441, 2301476 ref. K [2301476]   Edit
208 7664288_11 LOH(7) prostate cancer q31 q31.31 D7S496/ D7S523 D7S486/ D7S522 7664288 11   Edit
209 7664288_13 LOH(7) prostate cancer q31 q31.3 D7S496/ D7S523 D7S522/ D7S480 7664288 13   Edit
210 7664288_38 LOH(7) prostate cancer q31 q32 D7S523/ D7S486 D7S504/ D7S530 7664288 38   Edit
211 8330268_4 70, XX, del(7)(q31) [partial karyotype] moderately differentiated adenocarcinoma of ovary, metastasis ascitic fluid q31 qter     8330268 case 4   Edit
212 15066321_19b 46-48, XX, t(7;8)(q21;q24), +11, -18, +2mar [cp17] [clone 19a: t(7;8)(q21;q24) .ish t(7;8;?)(wcp8+, D7S684-; wcp7+, 46O13+, D7S480+, D7S650+); clone 19b: ish add(7)(q31)(46O13+, D7S480+, D7S684-)] refractory anemia q31       15066321 19, close b maker D7S684 was lost; RP11-46O13 and D7S480 were inverted- distal breakpoint was between D7S650 and D7S2471; D7S686, D7S514 and telomeric probe were duplicated and translocated to two marker chromosomes; Mitelman Database, Reference No. 10594 Edit
213 MCN_19990002-004 46, XX, t(3;7)(q13.3;q31) mat et pat brachydactyly, square face, GH-deficiency, frontal bossing, prognathism, low set ears, short stature - postnatal q31       MCN ID: 19990002-004 www.mcndb.org Edit
214 Maloney_ESHG2005_2_2 46, XY, ins(7)(p14q31q34) del(7)(q31q31) [cryptic del(7)(q35q35) was detected by FISH] mild to moderate learning difficulties, arrested hydrocephalus, short stature, small head q31 q34     second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
215 Maloney_ESHG2005_2_3 46, XY, ins(7)(p14q31q34) del(7)(q31q31) [cryptic del(7)(q35q35) was detected by FISH] mild to moderate learning difficulties, arrested hydrocephalus, short stature, small head q31 q31     second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
216 24371113 46,XY,del(7)(q31qter) split-hand/f oot malformation, small stomach, cystic lesion without peristalsis above bladder, single umbilical artery, polyhydramnios, hypospadias, small penis, cryptorchidism, ventricular septal defect, sigmoid colon dilatation q31 qter     24371113 case 3   Edit
217 12210480_24 LOH(7) prostate cancer q31.1   D7S522/ D7S486   12210480 24 primary tumor and metastatic tissue Edit
218 22303804 4?,XX,dup(7)(q31.2q33) growth restriction, short stature, speech delay, inguinal hernia, strabismus, intellectual disability q31.2 q33     22303804   ~22.3 Mb duplication; discussion of ING3 and LEP as candidate genes Edit
219 19900039_2 46,XY,der(6)t(6;7)(q26;q31.2)pat.arr 6q26(162756916-170763014)x1,7 q31.2(116266547-158811327)x3 hemivertebrae with lumbar scoliosis, imperforate anus, rectoanal atresia, dilated distal rectum with presence of ganglions, rectourethralfistula, bilateralclinodactyly, mild club feet q31.2 qter     19900039 abortus ~42.5 Mb gain Edit
220 19900039_1 46,XY,der(6)t(6;7)(q26;q31.2)pat.arr 6q26(162756916-170763014)x1,7 q31.2(116266547-158811327)x3 hemivertebraewith lumbar scoliosis, imperforate anus, rectoanal atresia, dilated distal rectum with presence of ganglions, rectourethralfistula, bilateralclinodactyly, mild club feet q31.2       19900039 abortus   Edit
221 7664288_35 LOH(7) prostate cancer q31.3 q31.33 D7S486/ D7S480 D7S487/ D7S490 7664288 35   Edit
222 7664288_40 LOH(7) prostate cancer q31.3 q32.1 D7S480/ D7S487 D7S487/ D7S504 7664288 40   Edit
223 10602362_3 46, XY, t(6;7;18)(6pter-> 6q22::6q25-> 6qter; 18pter-> 18q21.3::7q31.3-> 7q32.1::6q22-> 6q25::18q21.3-> 18qter) pat epicanthic folds, slightly depressed nasal bridge, thick alae nasi, anteverted nares, postaxial hexadactyly of both hands, tapering fingers, small umbilical hernia, normal psychomotor development q31.3 q32.1     10602362 patient 3 third son of 10602362_4 Edit
224 ECACC_97101701 46, XY, t(7;8)(q31.3;p21.3) pat phenotype abnormal q31.3       97101701 (cell line: HH0372) fetus; amniotic fluid at 16-week gestation; www.ecacc.or.uk Edit
225 9815935_T29 LOH(7q) prostate cancer q31.3 ?qter D7S522/ D7S650   9815935 T29   Edit
226 9815935_T31 LOH(7q) prostate cancer q31.3 ?qter D7S486/ D7S480   9815935 T31   Edit
227 MCN_19920003-032 46, XX, inv(7)(q31.3q35) mental retardation, short stature - postnatal q31.3 q35     MCN ID: 19920003-032 www.mcndb.org Edit
228 Faas_ASHG2003_2 46, XX, del(7)(q31.3q32.3) de novo moderate mental retardation, short stature, congenital heart anomaly, hypertelorism, wide nasal bridge, broad mouth, club feet q31.3 q32.3     patient 2 Faas et al., ASHG 2003, Program #626 Edit
229 1877619_T2_4 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development, ectrodactyly q31.3 (T2.4) qter     1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment of T2.4 - 7qter translocated onto der(9); two breakpoints(T2.1 & T2.2) located within and a third (T2.3) distal to the smallest region of overlap (SRO) for SHFD1; www.mcndb.org Edit
230 9815935_T1 LOH(7q) prostate cancer q31.31 ?qter D7S486/ D7S522   9815935 T1   Edit
231 21626674 46,XY,inv(4)(p14;q21).arr (7q31.31q31.33)x1 de novo autism spectrum disorder, persistent hyperplastic primary vitreous, nystagmus, round face, low-set ears, broad eyebrows, hypertelorism, blepharophimosis, hypoplastic alae nasi, long philtrum, small mouth, abnormal MRI q31.31 q31.33     21626674   ~5.4 Mb deletion Edit
232 18483359_3 arr 7q31.31(118,941,035-124,625,5 14)x3 metastatic melanoma q31.31 q31.31     18483359   observed in 36.4% of 19 patient samples; 5.7Mb gain encompasses ING3, WNT16, PTPRZ1, SPAM1, POT1 Edit
233 9815935_T13 LOH(7q) prostate cancer q31.32 q31.32 - 32.1 D7S522/ D7S480 D7S480/ D7S490 9815935 T13 lost single locus D7S480 Edit
234 9815935_T26_1 LOH(7) prostate cancer q31.32 q31.32 - 32.1 D7S522/ D7S480 D7S650/ D7S490 9815935 T26   Edit
235 9815935_T41 LOH(7q) prostate cancer q31.32 ?qter D7S522/ D7S480   9815935 T41   Edit
236 19246517_AUT84 46,XY.arr 7q31.33q32.1(125,672,999-126,2 55,215)x3 autism, severe mental retardation, seizures, hyperekplexia or startle disease q31.33 q32.1     19246517 AUT84 ~582.2kb duplication includes GRM8 Edit
237 192866 46, XY, del(7)(q32) microcephaly, synbrachydactyly, diastasis recti, hypospadias, short neck, widely spaced nipples q32 qter     192866, 537019, 6758992, 8135290 case 12 [537019], case 16 [6758992] de novo or pat Edit
238 912940_3 46, XX, del(7)(q32) de novo cleft lip/palate, large mouth, mild micrognathia, slight microcephaly, widely spaced nipples, slight pectus excavatum, minimal umbilical hernia with slight diastasis recti, pilonidal sacral dimple, mixed muscle hypo and hypertonicity, mental retardation q32 qter     912940, 537019, 6758992, 8135290 case 3 (R.T.) [912940], case 10 [537019], case 19 [6758992]   Edit
239 6604481_Rudiger 46, XY, der(9)t(7;9)(q32;p24) mat mental and statomotoric retardation, muscular hypotonia, growth delay, dysmorphic features, hypoplastic external genitalia, cerebral convulsions q32       6604481 Rudiger K. (III-5) trisomy of 7q32-qter; sigling of 6604481_Sabine Edit
240 6604481_Sabine 46, XX, der(9)t(7;9)(q32;p24) mat mental and statomotoric retardation, bilateral epicantic folds, congenital total dislocation of the hips, muscular hypotonia, autoagressive behaviour, cerebral convulsions q32       6604481 Sabine K. (III-4) trisomy of 7q32-qter; sigling of 6604481_Rudiger Edit
241 9706338_2 46, XX, add(4)(q34) de novo [der(4)t(4;7)(q34;q32) inferred by CGH & FISH results] Pierre Robin-like syndrome, ventricular septal defect, persistant ductus arteriosus, died on day 15 due to cardiac complications q32       9706338 patient 2 trisomy 7q32-qter? Edit
242 1928105_7 46, XY, t(7;22)(q32;q11) de novo spondylocostal dysplasia, died at 2 years of age q32       1928105 7th case in Table 3   Edit
243 Thompson_ASHG1974 46, XX, t(7;18)(q32;q23) pat disproportionally large head, low-set ears, small for gestational age q32       fetus father, paternal uncle and grandmother have same translocation and are all phenotypically normal; mother has family history of D/G translocation; Thompson & Palmer, abstract, Am J Hum Genet 26:87A, 1974 Edit
244 MCN_19910003-047 46, XY, t(3;7)(q29;q32) de novo short stature - postnatal q32       MCN ID: 19910003-047 www.mcndb.org Edit
245 648176_cousin_2 46, XX, rec(7)dup(7q)inv(7)(p22q32) mat mental retardation, small stature, small hands and feet, small low-set ears, unable to rotate head, high arched palate, prognathism q32 qter     648176, 7521123, 7390476 first cousin (III-2, Family G111WH) [648176], case 14 [7521123], case 13 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; first cousin of 648176_proposita Edit
246 1377005_8 46-49, XY, add(1)(p11), +add(1)(q41), -2,-5, +del(7)(q32), -8, inv(10)(q22q24), der(12)t(1;12)(p11;p11), +der(18)t(2;18)(q11;q23)ins(18;?)(q23;?)x2, +1-3mar prostate cancer q32 qter     1377005 8 Mitelman Database, Reference No. 4067 Edit
247 21082657_1_1 46,XX,ins(7;13)(q32q34;q32).arr 7q34q36.2(141,630,000–153,8 70,000)x1 developmental delay, poor motor skills, language delay, mental retardation, ADD, epilepsy, primary amenorrhea, short stature, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth, thickvermilion, low-set ears, scoliosis, atrophy of the optical nerve, strabismus convergens q32 q34     21082657   insertion found in 3 generation family Edit
248 Faas_ASHG2003_1 46, XX, del(7)(q32.2q33) neurofibromatosis type I (NF-1), mild mental retardation, short stature, microcephaly, hypertelorism, arched eyebrows, upward slanting palpebral fissures, prominent eyes, high nasal bridge, broad mouth, long columella, clinodactyly and short 5th fingers q32.2 q33     patient 1 Faas et al., ASHG 2003, Program #626 Edit
249 18483359_4 arr 7q32.3q35(131,765,107-146,524,5 65)x3 metastatic melanoma q32.3 q35     18483359   observed in 27.3% of 19 patient samples; 14.8 Mb gain encompasses BRAF Edit
250 18675947 46,XX,del(7)(q33q36.1)de novo autism, neonatal hypocalcemic seizures, developmental delays, sleep difficulties, speech delay, two seizures at age 16, truncal obesity, coarse facial features, sunken eyes, hypertelorism, large nose, long and pronounced philtrum, large mouth, bilateral preauricular pits, long and slender fingers with proximally placed thumbs, primary amenorrhea, Tanner II breast development, diparesis and truncal ataxia, mild cerebellar hypoplasia, partial agenesis of the corpus callosum q33 q36.1     18675947 proband proximal breakpoint (chr7:137106034) lies in intron 1 of the CREB3L2 gene; distal breakpoint (chr7:149827313) lies within exon 3 of the GIMAP2 gene; ~12 Mb deletion; discussion of CNTNAP2 and NOBOX as candidate genes Edit
251 11754068 46, XY, der(15)t(7;15)(q34;q26.3) pat bilateral congenital glaucoma, some Russell-Silver syndrome symptoms, short stature, triangular face, fifth finger clinodactyly, body asymmetry q34       11754068   trisomy of 7q34-qter; father had balanced t(7;15) Edit
252 1576752_BH 46, XY, der(7)t(7;8)(q34;q24.1) pat growth retardation, microcephaly, atrophic right eye, esophageal atresia with distal fistula, left hydroureteronephrosis with a patent foramen ovale q34       1576752 B.H. monosomy of 7q34-qter; father had balanced t(7;8) Edit
253 12868476_mother 46, XX, t(7;13)(q34;q34). ish t(7;13)(wcp7+, STS2000H-, wcp13+mv, D13S327+mv; wcp13+, D13S327-, wcp7+mv, STS2000H+mv) phenotypically normal q34       12868476 mother mother of 12868476_1; she had abortion at 22 weeks (patient 2: extreme hydrocephalus, cleft palate, distal arthrogryposis, club feet, no chromosome analysis) Edit
254 12850374_1_1 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases q34 q11     12850374 1 Mitelman Database, Reference No. 10210 Edit
255 Uria-Gomez_ASHG2003 46, XY, t(6;7)(p21.3;q34) phenotypically normal, wife had four spontaneous abortions q34       husband fetus from 9 weeks gestation abortion had trisomy 16; Uria Gomez et al., ASHG 2003, Program #827 Edit
256 MCN_20020003-059 46, XX, del(7)(q34) de novo mental retardation, agenesis/ hypoplasia of kidneys, coloboma of the eyelid, abnormal hearing, small nose, abnormal dentition, short stature q34 qter     MCN ID: 20020003-059 www.mcndb.org Edit
257 15834588_2 46, XX, t(7;10)(q33;q23) de novo [microdeletion del(7)(q34q35) detected by FISH] Rett syndromeCowden syndrome; developmental delay, macrocephaly, kyphoscoliosis; hypotonia, feeding problems, recurrent infections, speech delay, frontal bossing, large eyes with downslanting palpebral fissures, slight pectus q34 q35 PTN TPK1$ 15834588   same case as 15834588_1; 7 Mb deletion: proximal breakpoint was mapped between exon 1 and exon 5 of PIN gene, and distal breakpoint lies within intron 8 of TPK1 gene Edit
258 16222668_mother_2 46, XY, ins(6;7)(p25;q33q34) mat [del(7)(q34q34) was detected by FISH] phenotypically normal q34 q34 RP11-237G17/ RP5-894A10 RP11-250J16/ RP11-707F14 16222668 mother of proband (III-5) 227 kb segment at distal breakpoint (7q34) was deleted; mother (grandmother of proband) had same balanced insertion Edit
259 21082657_1 46,XX,ins(7;13)(q32q34;q32).arr 7q34q36.2(141,630,000–153,8 70,000)x1 developmental delay, poor motor skills, language delay, mental retardation, ADD, epilepsy, primary amenorrhea, short stature, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth, thickvermilion, low-set ears, scoliosis, atrophy of the optical nerve, strabismus convergens q34 q36.2     21082657   ~12.2 Mb deletion; NCBI36 Edit
260 8933345 46, XX, del(7)(q35) Currarino triad, severe stenosis of the anus and distal rectum, sacral agenesis, presacral mass q35 qter     8933345     Edit
261 12910499_1 46, XX, t(4;7)(p15.2;q35) pat [microdeletion at 7q35-q36.1] postaxial polydactyly type B, mental retardation, microcephaly, dysmorphic features q35 q36.1 AC083849/ AC006974 AC004877/ AC092681 12910499 index karyotype of unaffected father was 46,XY,t(4;7)/46,X Y Edit
262 12910499_2 46, XX, t(4;7)(p15.2;q35) pat [microdeletion at 7q35-q36.1] postaxial polydactyly type B, mental retardation, microcephaly, dysmorphic features q35   AC083849/ AC006974   12910499 index karyotype of unaffected father was 46,XY,t(4;7)/46,X Y Edit
263 MCN_19930004-281 46, XX, t(7;14)(q35;q12) de novo webbed neck/excess skin/cystic hygroma, hypertelorism, short stature - postnatal, micrognathia/a gnathia total/retrognathia q35       MCN ID: 19930004-281 www.mcndb.org Edit
264 1176136 46, XY, der(7)t(7;10)(q35;p14) pat severe mental retardation, small stature, hypotonia, retarded bone age, high and bulky forehead q35       1176136, 8135290   monosomy of 7q35-qter; father had balanced t(7;10) Edit
265 Maloney_ESHG2005_2_4 46, XY, ins(7)(p14q31q34) del(7)(q31q31) [cryptic del(7)(q35q35) was detected by FISH] mild to moderate learning difficulties, arrested hydrocephalus, short stature, small head q35 q35     second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
266 17392702_V:1 46,XY,der(7)t(7;15)(q35;q26.2) multiple congenital malformations, severe mental retardation, no language development, scoliosis, myopia, introverted personality q35   RP11-162A9   17392702 V:1 All FISH results were performed on grandmother III:2; father, grandmother and great grandfather all carry same apparently balanced translocation; Paternal aunt carries unbalanced translocation, Paternal aunt_IV:4: mulitple malformations, severe mental retardation, no language development, single kidney, hearing loss, ptosis, vision loss due to cataract and affected optic nerve, cheerful, extrovert, died at age 34; Grandmother_III:2: hypermetropia and pre-eclampsia during her second gestation, other carriers phenotypically normal Edit
267 9254845_1855 46, XY, del(7)(q36) short stature, no holoprosencephaly q36 qter     9254845 1855   Edit
268 1583663 46, XY, dir dup(7)(q36qter) de novo developmental delay, speech delay, macrocrania, constant drooling, frontal bossing q36 qter     1583663, 10951456, 11531975, 12407716, 12818530     Edit
269 14663834 46, XX, add(7). ish der(7)t(2;7)(p22;q36) de novo [11]/ 46, XX [11] [amniotic fluid & blood at birth] sacrococcygeal teratoma (immature), prominent high forehead, small nose with depressed nasal bridge, micrognathia with carp shaped mouth, died of postoperative complications at 7 days after birth, considered as partial Currarino syndrome; mother had polyhydramnios at 32 weeks' gestation q36       14663834 newborn monosomy of 7q36-qter; hemizygous for HLXB9 Edit
270 1377005_4 42-43, X, -Y, del(1)(q23), t(5;16)(q13;q22), t(6;15)(p25;q24), der(7)t(7;12)(q36;p11), add(8)(p11), -10, der(12)t(12;13)(p11;q12), add(17)(p13), -18, add(21)(q22), +1-2mar/ 44, XY, del(1), t(5;16), t(6;15), der(7), -8, -10, der(12), add(17), -18, add(21), +1-4mar prostate cancer q36       1377005 4 Mitelman Database, Reference No. 4067 Edit
271 Pappas_ASHG2005_2 46, XY, der(7)t(7;8)(q36;q24.3) [detected by FISH] born small for gestational age, short stature, poor weight gain, microcephaly, torticollis, facial asymmetry, short upslanting palpebral fissures, broad tip of the nose, malar hypoplasia, down-turned corner of the mouth, bilateral cutaneous syndactyly between III - IV fingers and III - IV toes q36       case 2 monosomy of 7q36-qter; Pappas et al., ASHG 2005, Program #599 Edit
272 15264280_8 46, XY. ish der(7)t(7;11)(q36;p15.5)(7pSUBTEL-, D11S2071+) mat multiple congenital anomalies, growth retardation, severe mental retardation, cleft lip and palate, sacral agenesis with a tethered cord, hypospadias with chordee, feeding difficulties, failure to thrive, chronic otitis media, mild bilateral hearing loss, chronic upper respiratory tract infections, seizures, cortical visual impairment, microphthalmia, hypothyroidism, precocious puberty, bowel and bladder incontinence, blepharophimosis with horizontal palpebral fissures, distachiasis, absent nasal bridge, depressed nasal tip, cupped and protruding ears, depressed premaxillary region, malaligned teeth, flattened occiput, inferiolaterally displaced nipple, partial syndactyly of the hands, single transverse palmer creases, tapering fingers, distal finger contractures with decreased flexion creases, adducted thumbs, short palms, diffuse hypotonia, absent deep tendon reflexes q36       15264280 patient 8 monosomy of 7q36-qter; healthy mother with a history of three 1st trimester miscarriages had balanced t(7;11) and der(13;14) Edit
273 22821890_2 46,XX,der(7)t(7;17)(q36;p13)mat.arr (7q36.2qter )x1, (17pterp13.1)x3 severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, narrow sloping forehead, down-slanting palpebral fissures, ptosis, exophthalmus, epicanthus of right eye, strabismus divergens, slightly prominent and overhanging nasal tip, broad nasal bridge, small nostrils, hypoplastic alae nasi, prognathism, short distal phalanges with poorly developed nails, bilateral syndactyly of the toes q36       22821890     Edit
274 2094780_2 46, XY, del(7)(q36.1) single maxillary central incisor, mental retardation, microcephaly, hypotelorism, short stature, bilateral hydroureteronephrosis q36.1 qter     2094780, 8135290 case 2 (KCMC 46975)   Edit
275 2094780_1 46,XX, del(7)(q36.1) de novo single maxillary central incisor, mental retardation, microcephaly, hypotelorism, short stature, bilateral caudal ectopic kidneys, double renal pulves, dilated ureters q36.1 qter     2094780, 9254845, 8135290 case 1 (KCMC 101702) [2094780], pt. 6 (cell line 704) [9254845]   Edit
276 Lowry_A420_deletion7q 46, XY/XY, der(7)t(7;22)(q36.1;p?) psychomotor retardation, microcephaly, short stature q36.1         monosomy of 7q36.1-ter; 4 of 6 patients in 3 generations in a family carried same karyotype; Lowry et. Al, abstract #420 Edit
277 18348270 46,XX,del(7)(q36.1q36.2)de novo seizures on the first day of life attributed to antiepileptic drug withdrawal, heart defects, delayed psychomotor and speech development, hypodysplasia of the kidney, brain MRI revealed a mild enlargement of ventricules and a mild hypoplasia of the corpus callosum, prominent forehead, deep set eyes, posteriorly angulated ears with simple helix, bilateral epicanthal folds, flat nasal bridge, bulbous nasal tip, flat malar region, pointed chin, pectus excavatum, generalized hypertrichosis, small hands and feet, sleep disturbance, moderate mental retardation, language difficulties, sustained attention deficit q36.1 q36.2 147.55 Mb /147.70 Mb (NCBI Build 35) 152.8 Mb/153.0 Mb (NCBI Build 35) 18348270 proband mother had seizures which were treated with phenytoin during first 6 weeks after conception and phenobarbital and carbamazepine for remainder of pregnancy; deletion detected by microarray, loss of KCNH2 and PRKAG2 genes Edit
278 15200505_14 46, XX, der(7)t(1;7)(p36.31;q36.2) pat severe mental retardation, postnatal growth retardation, developmental delay, microcephaly, depressed nasal bridge, high-arched eyebrows, ptosis, bilateral coloboma, esotropia, prominent philtrum, cleft palate, downturned corners of mouth, low set ears, four finger line, short 5th toes, hypoplastic distal feet phalanges, patent ductus arteriosus, atrial septal defect, renal hypoplasia, chronic renal failure, dislocated anus, chronic constipation q36.2   RP11-422E4/ RP11-177P15   15200505 patient 14 monosomy of 7q36.2-qter; breakpoint at 7q lies at 4 Mb from the telomere; father had balanced t(1;7) Edit
279 22821890_1 46,XX,der(7)t(7;17)(q36;p13)mat.arr (7q36.2qter )x1, (17pterp13.1)x3 severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, narrow sloping forehead, down-slanting palpebral fissures, ptosis, exophthalmus, epicanthus of right eye, strabismus divergens, slightly prominent and overhanging nasal tip, broad nasal bridge, small nostrils, hypoplastic alae nasi, prognathism, short distal phalanges with poorly developed nails, bilateral syndactyly of the toes q36.2 qter rs11543936/r s2316539   22821890   ~4.4Mb deletion Edit
280 23401163 46,XY,del(7)(q36.1 q36.3).arr 7q36.2q36.3(153,206,357–156,1 33,135)x1 dn [hg19] congenital eye abnormalities, short stature, tracheomalacia, deviated septum, bilateral vertical talus, failure to thrive, long thin face, bitemporalnarrowing, midface hypoplasia, depressed nasal bridge, longnasal ridge, smooth short philtrum, thin upper lip vermillion, tapered fingers, proximal implantation of thumbs, short fifthfinger, pes planus, high palate, absence of two incisors q36.2 q36.3     23401163     Edit
281 11090342_1 4?, X? [microdeletion del(7)(q36.3q36.3)] acheiropodia: truncation of distal humeri, absence of Bohomoletz bone, truncation tibiae, absence of fibulae q36.3 q36.3 cos217b8 cos217b8 11090342 proband (V-3), Family 1 genomic 4- to 6-kb deletion between 1.2-2.5 kb 5-prime of exon 4 and 2.7-3.5 kb 3-prime of exon 4 Edit
282 MCN_19960001-002 46, XY, der(2)t(2;7)(q37.2;q36.3) high arched eyebrow, syndactyly of fingers, shunt VSD/ASD/PDA, abnormal anterior segment of the eye, abnormal pigmentary skin changes, ridged metopic suture/trigonocephaly, polydactyly - postaxial (ulnar)/type unspecified, abnormally placed pupil/Axenfeld/R ieger anomaly, excessive skin wrinkling, abnormal genitalia; type not specified, hypotonia q36.3       MCN ID: 19960001-002 trisomy of 7q36.3-qter; www.mcndb.org Edit
283 15211664_3_patient 46, XX. ish der(7)t(7;10)(q36.3;q26.3)(yac765c12/D 7S550-, D7S427-) severe developmental delay, short stature, language defect, congenital cataracts, bilateral colobomas of the choroid , bilateral ptosis, hypoplastic alae nasi, feeding problems, intestine/bladder control problems, muscular hypotonia, absence of primary and permanent incisors in the lower and upper jaws q36.3       15211664, 15294281 patient 3 [15211664], patient 7 (31-28100) [15294281] monosomy of 7q36.3-qter (deletion size < 3.6 Mb); mother had balanced t(7;10); Brain MRI was completely normal Edit
284 9788736 4?, X? [microdeletion del(7)(q36.3q36.3)] acheiropodia: bilateral truncations of distal humeri and tibiae, absence of fibulae, presence of Bohomoletz bone at the distal q36.3 q36.3 cos217b8 cos217b8 9788736, 11090342 proband (VI-2), Family 2 [11090342] genomic 4- to 6-kb deletion between 1.2-2.5 kb 5-prime of exon 4 and 2.7-3.5 kb 3-prime of exon 4 Edit
285 11090342_3 4?, X? [microdeletion del(7)(q36.3q36.3)] acheiropodia: truncation of distal humeri, absence of Bohomoletz bone, truncation tibiae, absence of fibulae q36.3 q36.3 cos217b8 cos217b8 11090342 proband (II-2), Family 3 genomic 4- to 6-kb deletion between 1.2-2.5 kb 5-prime of exon 4 and 2.7-3.5 kb 3-prime of exon 4 Edit
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