The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- All breakpoints (Non Malignant)

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 NIGMS_GM06097 46, XX, der(17)t(7;17)(p22.3;p13.2). ish der(17)(D17S379-, RARA+) Miller-Dieker Lissencephaly Syndrome (MDLS; 17p13.3): typical facies (bitemporal hollowing, thin downturned upper lip, micrograthia; micocephaly, high arched palate), ventricular septal defect p22.3       GM06097 trisomy of 7p22.3-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
2 11005146_2 45, XY, psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) de novo craniosynostosis, microcephaly, scaphocephaly, bilateral cataracts, dysmorphic facies (frontal bossing, epicanthal folds, prominent ears, broad short nose with a low nasal bridge, micrognathia, retrognathia), bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, deep palmar creases, developmental delay, hypospadias, curvature of the penis, hypotonia p22.3       11005146, 12548740 case 22 [12548740]   Edit
3 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
4 12362030_2 46, XX, der(7)t(7;16)(p22.3;p13.3) pat mental retardation, cleft palate, brain anomalies, pachygyria, optic nerve hypoplasia, genitourinary abnormalities, vesicoureteral reflux, hydronephrosis, dysmorphic features, ear abnormalities, micrognathia, 2-3 toe syndactyly p22.3       12362030, 15834244 case 2 [12362030], patient 12 [15834244] monosomy of 7p22.3-pter Edit
5 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
6 15039973_DD8903322 46, XX, t(2;7)(p23.3;p22.3) de novo phenotype not given; prenatal diagnosis was done p22.3       15039973 DD8903322   Edit
7 6745939_4 46, XX, der(17)t(7;17)(p22.3;p13.2) pat aborted fetus; mild micrognathia, prominent philtrum, bilateral 5th finger clinodactyly, sacral crease, cystic dysplasia in the left kidney [autopsy] p22.3       6745939 case 4 (C-83-99) sibling of 6834189_3; trisomy of 7p22.3-pter Edit
8 6834189_3 46, XX, der(17)t(7;17)(p22.3;p13.2) pat Miller-Dieker syndrome p22.3       6834189, 6745939 case 3 [6745939, 6834189] sibling of 6745939_4; trisomy of 7p22.3-pter Edit
9 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
10 23509645_2 fetal: 46,XX,r(7)(p22q36).ish r(7)(p22q36)(pVYS230A-,p VYS231A-)dn. arr 7p22.3(54,215-170,3 96)x1, 7q36.1q36.3(149,415,502-159,1 18,537)x1 [hg19] fetal holoprosencephaly, hypotelorism p22.3 p22.3     23509645   pregnancy terminated; ~170 kb deletion Edit
11 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
12 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
13 24311514 4?,XX.arr 7p22.3 (2,194,515–2,319,8 39)x3 [hg19] developmental delay, hypotonia, tetralogy of Fallot, microcephaly, nonverbal p22.3 p22.3     24311514   ~125 kb duplication including FTSJ2 and NUDT1 genes and partially including MAD1L1 and SNX8 genes; discussion of SNX8 as candidate gene Edit
14 12058345_AU044 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 GDB:1317384/ D7S2017   12058345 Family AU044 deletion size 183 kb Edit
15 12058345_AU098 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 D7S472/ D7S1939   12058345 Family AU098 deletion size 96 kb Edit
16 12457405 46, XX, der(7)t(7;16)(p22.3;q24.1) de novo [detected by FISH & CGH] psychomotor and mental retardation, high forehead with bitemporal narrowing, broad nasal bridge, broadened nose, downslanting palpebral fissures, abnormal ears, vertebral abnormalities, cardiac defect, genital hypoplasia, anal abnormalities p22.2 - 22.1   D7S531/ D7S517   12457405   monosoy of 7p22.3-pter (by FISH); molecular cytogenetic data is not consistent with karyotype Edit
17 Unpublished_HH303 4?, X?, t(7;10)(p22;p11.2) phenotype not given p22.2   D7S2649/ D7S544E   HH303 patient cells: ecacc.org.uk; somatic cell hybrid HH303 RJK 3: www.uni-marburg.de/h umgen; data unpublished Edit
18 3538996_PA13b 46, XY, inv(7)(p22.2q21.13) de novo sterility p22.2 q21.13     3538996 PA13b previously published elsewhere Edit
19 16909388_6545 del(7)(p22.2p22.1) de novo pre-/postnatal growth retardation, microcephaly, patent ductus arteriosus, perimembranous ventricular septal defect, failure to thrive, severe developmental delay, brachycephaly, epicanthic folds, midface hypoplasia, lateral flare of eyebrows, syndactyly of II-III toes p22.2 p22.1 rs10499339 rs1368052 16909388 6545 3.6 Mb deletion Edit
20 23765050_28 46,X?.arr 7p22.2p21.3(3,612,717-8,278,5 10)x3 autism p22.2 p21.3     23765050 Subject 28 ~4.67 Mb duplication includes FOXK1 Edit
21 12058345_AU026 46, XX, del(7)(p22.1p22.1) [not visible] autism/ pervasive developmental disorder (PDD) p22.1 p22.1 D7S472/ D7S517   12058345 Family AU026 69-kb deletion containing D7S517 Edit
22 3839444_1 46, XX, der(7)t(3;7)(p24.3;p22.1) mat psychomotor developmental delay, especially language delay, facial dysmorphism, asymmetric skull with a prominent right frontal boss, flattened face and broad neck, antimongoloid slant of eyes, esotropia, short nose with flattened base and small pit at the top of the philtrum, microstomia, thick lips, high arched palate, retroverted ears with excess folds, epileptic signs p22.1       3839444 case 1 monosomy of 7p22.1-pter Edit
23 2309771_familyG_mother 46, XX, inv(7)(p22.1q34) phenotypically normal p22.1 q34     2309771 family G, mother mother of 2309771_familyG_infant Edit
24 9007337 46, XY, dir dup (7)(p21.2p22.1) de novo supravalvular pulmonary stenosis, atrial septum defect, mental retardation p22.1 p21.2     9007337, 10494083 case 44 [10494083]   Edit
25 9792856_CP_2 46, XY, t(7;8)(p21;q13) de novo [microdeletion del(7)(p21p22.1)] craniosynostosis, facial asymmetry, low frontal hairline, ptosis, brachdeactyly, learning disabilities p22.1 p21 D7S481/ D7S2514 D7S503/ D7S654 9792856 CP   Edit
26 ECACC_91071217 46, XX, t(2;7)(p23.1;p22.1) de novo phenotype not given p22.1       91071217 (cell line: DD0348) www.ecacc.org.uk; data unpublished Edit
27 14513358_W63P 46, XY, del(7)(p15.3p21.3) craniosynostosis, metopic synostosis, facial and hand dysmorphisms, developmental delay p22.1 p21.1 D7S2514 D7S2510 14513358 W63P 797 bp to 14.4 Mb deletion; molecular cytogenetic data is not consistent with karyotype Edit
28 14513358_C2535J 46, XY, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, developmental delay p22.1 p21.1 D7S481 D7S2510 14513358 C2535J 510 kb to 16 Mb deletion; molecular cytogenetic data is not consistent with karyotype Edit
29 NIGMS_GM00633_ 1 46, XY, t(7;10)(p21.2;q11.21) del(7)(p21.2p22.1) congenital malformations, severe retardation p22.1 p21.2     GM00663 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; see 1132253_1 & _2 (fibroblast from same proband) Edit
30 1132253_1 46, XY, t(7;10)(p21.2;q11.21) del(7)(p21.2p22.1) congenital malformations; severe retardation p22.1 p21.3 D7S537E/ SHGC-17982 D7S664/ Cda0ld02 1132253, 2431619, 1663489, 7607696 GM00044 (GM44, GM0044) fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 0044 RAG 1-15, 0044 RAG 9-40-5: www.uni-marburg.de/h umgen; molecular data unpublished; see NIGMS_GM00633_ 1 & _2 (lymphoblast from same proband); molecular cytogenetic data is not consistent with karyotype Edit
31 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
32 Papadopoulou_ESHG2006 46, XX. [del(7)(q11.23q11.23) de novo was detected by array CGH] psychomotor retardation, stereotypic behavior, generalized hypotonia, peculiar thin Wolf-Hirschhorn syndrome-like facies (high forehead, hypertelorism, slight palpebral fissures, pale highly arched eyebrows, thin lips, high narrow palate, micrognathia, straight and thin nose with a broad bridge, slightly angulated pointed tip and narrow inverted nostrils), low set ears, abnormal palmar creases, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger p22.1 p13       Papadopoulou et.al., ESHG, 2006, P0007 Edit
33 1623626_1 46, XX, ins(7)(p22.1p21.4q36.1) mat had three first trimester miscarriages and one second trimester intrauterine death p22.1       1623626 proband mother, sister, maternal uncle and cousins have same insertion Edit
34 17103460 46, XX, dup(7). ish dup(7)(pter-> p13::p22.1-> qter)(wcp7+) de novo IUGR, mental retardation, developmental delay, stereotypic behaviour (holding the hands in front of the face and bending of legs), hypotonia, microcephaly, large anterior fontanel, hypertelorism, high forehead, hypertelorism, slight downslanting palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger, abnormal palmar creases p22.1 p13     17103460     Edit
35 18475318 46,XY,t(7;16)(p22;p11)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-730B22   18475318     Edit
36 21302340_15 4?,XY.arr 7p22.1(5,100,000–6,500,0 00)x3 de novo syndromic ASD p22.1 p22.1     21302340 case 15 ~1.4Mb duplication encompasses SLC29A4; NCBI build 36.1 Edit
37 20414355; 18475318 46,XY,t(7;16)(p22;p11.2)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-152I5 RP11-730B22 20414355; 18475318   discussion of Q6NUR6 (RNF216L) as candidate gene Edit
38 23765050_14 46,X?.arr 5q22.2(112,270,214-112,315,4 53)x1,7p22.1(4,735,218-4,908,0 23)x3 [hg18] autism p22.1 p22.1     23765050 Subject 14 ~200 kb duplication includes RADIL, PAPOLB, FOXK1, KIAA0415 Edit
39 22495914 46,XX.arr 7p22.1(5,337,072-6,316,9 15)x3 de novo [hg18] intellectual disability, macrocephaly spastic diplegic cerebral palsy, abnormal EEG, internal hydrocephalus, vegetodystonia, truncual obesity, low-set and protuding ears, downslanting palpebral fissures, ocular hypertelorism, short nose, anteverted nares, midface hypoplasia, facial asymmetry, severe microretrognathia, high and narrow palate, microstomia, thin lips, midline pseudo-cleft upper lip, tapering fingers, abnormal palmar dermatoglyphic patterns, contractures of the Achilles tendons, scoliosis, short Vth toes p22.1 p22.1     22495914   979.8 kb duplication; discussion of ACTB as candidate gene Edit
40 21837366_S2 46,XY.arr 3p14.1(63,865,947-63,903,7 59)x1 de novo,7p22.1(6,410,321-6,773,8 92)x1 de novo [hg19] autistic disorder p22.1 p22.1     21837366 S2 ~ 363 kb deletion Edit
41 24214456 46,XX. arr 7p22.1(5,990,207-6,026,9 96)x1 de novo Beckwith–Wiedemann syndrome, fibroadenoma of the breast p22.1 p22.1     24214456   ~37 kb deletion; discussion of PMS2 as candidate gene Edit
42 7206305_1 46, XX, t(4;7)(q31;p22)del(7)(q32) de novo microcephaly, hypertelorism, exophthalmus, divergent strabismus, blue sclera, micrognathia, irregular alveolar ridge, systolic heart murmurs (VSD, PDA), sacral dimple, cutis marmorata p22       7206305, 6758992, 3354600, 8135290 case 23 [6758992]   Edit
43 624544_mother 46, XX, t(7;12)(p22;p11) mat phenotypically normal except relatively short 3rd and 4th fingers on the right hand and short 4th and 5th fingers on the lefthand, broad outgrowth of the medial phalangeal part of the metatarsophalangeal joints (teardrop-deformity) p22       624544 mother, lll-4 her mother (grandmother, II-3) had same translocation and balanced t(2;6); mother of 624544_IV-3 Edit
44 624544_sibling 46, XX, t(7;12)(p22;p11) mat phenotypically normal p22       624544 sibling, IV-2 sibling of 624544_IV-3 Edit
45 624544_aunt 46, XX, t(2;6)(q35;q23), t(7;12)(p22;p11) mat phenotypically normal except relatively short 3rd and 4th fingers on the right hand and short 4th and 5th fingers on the lefthand; multiple spontaneous abortions p22       624544 aunt, lll-2 her mother (grandmother, II-3) had same double translocations; aunt of 624544_IV-3 Edit
46 837945 45, XX, der(7)t(7;13)(p22;q12.1), -13 de novo mental retardation; hemihypertrophyleft side; developmental delay; fibroblast culture from right arm skin biopsy p22       837945, 7521123 GM01840 [837945], case 13 [7521123] monosomy of 7p22-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
47 2225528_7 46, XX, der(7)t(7;11)(p22;q14) patent ductus arteriosus, atrial septal defect p22       2225528 case 7 (BWIS#2231) monosomy of 7p22-pter Edit
48 8266989_mother 46, XY, t(2;7)(p23;p22) brachycephalic, a low anterior hairline, flat face, mild ptosis of the eyelids, small ears with overfolding of the upper helix of the left ear, highly arched palate, and minimal soft tissue syndactyly of the second and third fingers p22       8266989 mother   Edit
49 9660064 46, XX, der(8)t(8;15)(q24.3;q24), der(15)t(7;15)(p22;q24) de novo macrocephaly, seizures, mild dysmorphic feautres, developmental delay, hyperpigmentation, café-au-lait spots p22       9660064, 10494083 case 47 [10494083] trisomy of 7p22-pter Edit
50 11746010 46, XX or XY, der(7)t(4;7)(q28;p22) mat or pat mental and developmental retardation, brachycephaly & small head, hypotonia, restricted speech, seizures, dysmorphic features, high arched palate, cryptorchidism (males only) p22       11746010 proband (IV-19), brother of proband (IV-20), cousin of proband (IV-18) monosomry of 7p22-pter; mother of IV-19 & 20 and father of IV-18 had balanced t(4;7) Edit
51 Unpublished_37 46, XY, t(7;9)(p22;q34) speech problems p22       37 several affected family members; data unpublished Edit
52 123836 47, XX, t(7;11;21)(p21-22;q13;q21), +21 [fragment of 7p22-pter was not recognizable] Down's syndrome p22 - 21       123836 two siblings mother and phenotypically healthy sibling had same translocation Edit
53 1552550 46, XX, inv(7)(p22q11.23), r(8)(p23q24.3) de novo congenital microcephaly, psychomotor developmental delay, high arched palate, prominent nose, no speech p22 q11.23     1552550     Edit
54 7616545_T8 46, XY, inv(7)(p22q21.3) de novo bilateral split hand/split foot, haemangioma p22 q21.3   D7S527/ D7S1812 7616545, 8733122, 8782053, 10049579, 12690205 T8 [8733122, 10049579], ref. 20 [8782053]   Edit
55 9415687_father 46, XY, inv(7)(p22q22) phenotypically normal p22 q22     9415687 father   Edit
56 10590434_father 46, XY, inv(7)(p22q31.3) phenotypically normal p22 q31.33   D7S490/ D7S686 10590434 father   Edit
57 11992485_1 46, XX, dup(7)(?p15.3?p22) [75]/ 46, XX [15] global intellectual impairment, rebellious behaviour, psychosis, shallow supraorbital ridges, large nose, high palate p22 p15.3     11992485 patient 1 mother of 11992485_2 Edit
58 11992485_2 46, XY, dup(7)(?p15.3?p22) mat hypertelorism, constipation, hypotonia, high palate, atrial septal defect, tethered penis p22 p15.3     11992485 patient 2 son of 11992485_1 Edit
59 3879442 46, XX, dup(7)(p13p22) de novo [82%]/ 46, XX [18%] developmental delay, dolichocephaly, ocular hypertelorism, high arched palate, retrognathia p22 p13     3879442, 9297445, 10494083 case 4 [9297445], case 11 [10494083]   Edit
60 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
61 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
62 2189730 46, XY, r(7)(p22q36)/ 46, XY growth failure, microcephaly, achromic spots and multiple pigmented naevi p22 q36     2189730, 8362903, 10982483 case 7 [8362903, 10982483]   Edit
63 1746606 46, XY, r(7)(p22q36) [35]/ 46, XY, partial dup r(7) [3]/ 46, XY, dup r(7) [1]/ 46, XY, der(7)r(7) [1]/ 45, XY, -7 [1] congenital cyanotic heart disease, situs inversus, capillary hemangiomata, respiratory problems, renal problems, low birth weight, growth retardation, microcephaly p22 q36     1746606, 8362903, 10982483 case 9 [8362903, 10982483] de novo Edit
64 8362903 46, XY, r(7)(p22q36) [95%]/ 46, XY [5%] severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, genital abnormalities, traits of holoprosencephaly p22 q36     8362903, 10982483 case 10 [10982483]   Edit
65 8911601_1 46, XY, r(7)(p22q36)del(7)(q36.3q36.3)[90]/ 45, -7 [8]/ 46, XY, dup r(7) [1]/ 47, XY, r(7), +r(7) [1] hypotelorism, proptosis, single nostril, cleft lip/palate, ambiguous genitalia, semilobar holoprosencephaly p22 q36     8911601, 9254845, 10982483 859 [9254845], case 11 [10982483]   Edit
66 3150243 46, XX, r(7)(p22q36) [46]/ 46, XX, dic r(7) [1]/ 46, XX, -7 [3] multiple café-au-lait spots, hypotonic, tonic seizures, developmental delay, mental retardation p22 q36     3150243, 8362903, 10982483 case 6 [8362903, 10982483]   Edit
67 9254845_884 46, XX, r(7)(p22q36) developmental delay, retardation, microcephaly, dysmorphia, no holoprosencephaly p22 q36     9254845 884   Edit
68 NIGMS_GM03666 47, XY, +dic(15)(q11)/ 47, XY, inv(7)(p22q32), +dic(15) [38%] phenotypically normal p22 q32     GM03666 inv(7) is present in 38% of cells; fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
69 11595023_5 46, XX, der(7)t(7;16)(p22;q24) de novo dolichocephaly, hypertelorism, micrognathia, vertebral anomalies, brain stem dysfunction, anteriorly placed anus p22       11595023 proband (II-2), family 5 monosomy of 7p22-pter Edit
70 123589_4_older 47, XY, +der(21)t(7;21)(p22;q22) mat [16]/ 46, XY [112] mental retardation, hyperkinetic behaviour, small ears p22       123589, 2363431, 10494083 case 4 (III-1, older sib) [123589], case 45 [10494083] trisomy of 7p22-pter; sibling of 123589_4_younger; mother and sister carried balanced t(7;21) Edit
71 12913872_F_2 46, XX, ins(7)(p22q32q31.1) fertile; terminations of pregnancy or miscarriage in two out of three pregnancies p22       12913872 case F   Edit
72 14679581_4_1 46, XY, inv(7)(7pter-> 7p22::7q21.11-> 7p22::7q21.11-> 7qter), der(10)t(7;10;12)(12qter-> 12q21.3::7q21.11-> 7q21.11::10p13-> 10qter), der(12)t(10;12)(12pter-> 12q21.3::10p13-> 10pter) psychomotor delay, large skull, frontal bossing with receding frontal hairline, sparse eyebrows and eyelashes, large nose, small mouth, speech problems p22 q21.11   RP4-802A9/ RP5-897G10 14679581 patient 4   Edit
73 10466423 46, X, rea(Y;1;6;7)(Ypter-> Yq12::7p22-> 7pter; 1pter-> 1p36.1::1p32-> 1qter; 6pter-> 6q21; 7qter->7p22::1p32-> 1p34::6q21-> 6q23::1p34-> 1p36.1::6q23-> 6qter), inv(15)(q13q26.1) de novo. ish rea(Y;1;6;7)(cy2.1-, 109A+; wcp1+, D1Z2+; wcp6+, D6S152-, 2158e3-; wcp7+, 109A6-, wcp1, wcp6+, D6S152+, wcp1+, wcp6+, 215823+), inv(15)(wcp15+, SNRPN st, PML mv) [characterized by FISH] microcephaly, hyperactive, abnormal fingers, stiff joints, speech delay p22       10466423 FB   Edit
74 12119211 46, XX, der(7)t(4;7)(q27;p22) pat severe mental retardation, growth retardation, hearing impairment, minor foot, thumb and facial anomalies p22       12119211   monosomy 7p22-pter; phenotype from trisomy 4q syndrome Edit
75 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
76 11907622_t(6;7) 46, XY, t(6;7)(p21;p22) azoospermia p22       11907622 MCN ID: 20020035-999 first reported in Wang et al., 1997, Chin J Birth Health Hered 5: 96-9; www.mcndb.org Edit
77 1052767_RF 46, XY, t(7;17)(p22;q21) de novo infertility p22       1052767 R.F. (PK230/11/73); MCN ID: 19750009-999 www.mcndb.org Edit
78 50273_1 46, XX, t(6;7)(p11;p22) mat ovarian dysfunction, uterus bicornis subseptus, streak gonad p22       50273 case 1; MCN ID: 19750002-999 healthy mother had same translocation; www.mcndb.org Edit
79 9147109_t(2;7) 46, XY, t(2;7)(q23;p22) mat infertility p22       9147109 MCN ID: 19930002-178 www.mcndb.org Edit
80 8351488 46, XY, t(Y;7)(q11.2;p22) azoospermia p22       8351488 MCN ID: 19930017-99 www.mcndb.org Edit
81 6235485_lab46_t(7;20) 46, XX, t(7;20)(p22;q11) mat phenotype not given p22       6235485 balanced autosomal rearrangement from lab 46 amniocentesis Edit
82 ECACC_98112616 46, XX, t(7;12)(p?22;?)/ 46, XX developmental delay, hypotonia p22       98112616 (cell line: BH0109) www.ecacc.or.uk Edit
83 1017320 46, X, t(X;7)(q21;p22) secondary amenorrhea, phenotypically normal p22   D7S544E/ D7S472   1017320, 831158, 1663489, 8425221, 10377420 GM1696 (GM01696), case 50 [10377420] fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 1696RAG 2-2, 1696RAG 12-3: www.uni-marburg.de/h umgen; molecular data unpublished Edit
84 738728_17524 46, XX, der(7)t(7;9)(p2203;p2100) pat phenotype not given p22       738728 17524 monosomy 7p22-pter; father had balanced t(7;9) Edit
85 738728_1062 46, XX, t(6;7)(q11;p2205) mat spontaneous abortion p22       738728 1062 mother had balanced t(6;7) Edit
86 3479040_BDI41205 46, XX, der(7)t(3;7)(p14;p22) mat phenotype not given p22       3479040 BDI I41205 monosomy of 7p22-pter; amniocentesis was performed because mother was a translocation carrier Edit
87 8112744 46, XY, der(8)t(7;8)(p22;q12) phenotype not given p22       8112744     Edit
88 1171079 46, XX, t(7;13)(p22;q14) four spontaneous abortions p22       1171079, 511145     Edit
89 4025390 46, XY, der(7)t(7;16)(p22;p13) pat chondroplasia punctata, microcornea, shallow orbits, thin lips, submucous cleft palate, abnormal ears, short neck, excess skin on the abdomen, clinodactyly of II and V fingers, vertebral hypoplasia, absence of the gallbladder p22       4025390 baby boy A monosomy of 7p22-pter; father had balanced t(7;16) Edit
90 1928105_9 46, XX, t(7;16)(p22;q24) de novo volvulus obstruction of duodenum, patent ductus arteriosus, abnormal carotid artery origin, absent lung lobulation, annular pancreas, died at 5 days of age p22       1928105 9th case in Table 3   Edit
91 NIGMS_GM10393 46, XY, add(7)(p22). ish der(7)t(X;7)(p21;p22)(STS+, wcpX+, D7S589+). rev ish enh(Xpter->Xp21) phenotype not given p22       GM10393 monosomy of 7p22-pter; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
92 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
93 MCN_19840002-035 46, XX, t(5;7)(q13;p22) mental retardation, dislocated hip, generalised obesity p22       MCN ID: 19840002-035 www.mcndb.org Edit
94 MCN_19860001-059 46, X, t(X;7)(q22;p22) mental retardation, primary amenorrhoa p22       MCN ID: 19860001-059 www.mcndb.org Edit
95 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
96 MCN_19970064-224 46, XY, t(5;7)(q12;p22) mental retardation, paresis of ocular muscles/squint p22       MCN ID: 19970064-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
97 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
98 MCN_19920002-008 46, XY, t(5;13)(q11.2;q32.1), t(7;8)(p22;q21) macrocephaly, mental retardation, broad nasal bridge, abnormal cardiovascular structure/function p22       MCN ID: 19920002-008 www.mcndb.org Edit
99 MCN_19970081-224 46, XX, t(1;7)(p32;p22) mental retardation p22       MCN ID: 19970081-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
100 MCN_19940001-159 46, XY, t(1;5;7;12) arachnodactyly p22       MCN ID: 19940001-159 breakpoints: 5q12, 7p22, 1p36.1, 5q23, 12q14, 1p31; www.mcndb.org Edit
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