The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Translocation (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 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
4 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
5 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
6 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
7 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
8 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
9 Unpublished_HH303 4?, X?, t(7;10)(p22;p11.2) phenotype not given p22.2   D7S2649/ D7S544E   HH303 patient cells:; somatic cell hybrid HH303 RJK 3: umgen; data unpublished Edit
10 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
11 ECACC_91071217 46, XX, t(2;7)(p23.1;p22.1) de novo phenotype not given p22.1       91071217 (cell line: DD0348); data unpublished Edit
12 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
13 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
14 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
15 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
16 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
17 624544_sibling 46, XX, t(7;12)(p22;p11) mat phenotypically normal p22       624544 sibling, IV-2 sibling of 624544_IV-3 Edit
18 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
19 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
20 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
21 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
22 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
23 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
24 Unpublished_37 46, XY, t(7;9)(p22;q34) speech problems p22       37 several affected family members; data unpublished Edit
25 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
26 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
27 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
28 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
29 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
30 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
31 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; Edit
32 1052767_RF 46, XY, t(7;17)(p22;q21) de novo infertility p22       1052767 R.F. (PK230/11/73); MCN ID: 19750009-999 Edit
33 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; Edit
34 9147109_t(2;7) 46, XY, t(2;7)(q23;p22) mat infertility p22       9147109 MCN ID: 19930002-178 Edit
35 8351488 46, XY, t(Y;7)(q11.2;p22) azoospermia p22       8351488 MCN ID: 19930017-99 Edit
36 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
37 ECACC_98112616 46, XX, t(7;12)(p?22;?)/ 46, XX developmental delay, hypotonia p22       98112616 (cell line: BH0109) Edit
38 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: umgen; molecular data unpublished Edit
39 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
40 738728_1062 46, XX, t(6;7)(q11;p2205) mat spontaneous abortion p22       738728 1062 mother had balanced t(6;7) Edit
41 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
42 8112744 46, XY, der(8)t(7;8)(p22;q12) phenotype not given p22       8112744     Edit
43 1171079 46, XX, t(7;13)(p22;q14) four spontaneous abortions p22       1171079, 511145     Edit
44 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
45 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
46 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
47 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 Edit
48 MCN_19840002-035 46, XX, t(5;7)(q13;p22) mental retardation, dislocated hip, generalised obesity p22       MCN ID: 19840002-035 Edit
49 MCN_19860001-059 46, X, t(X;7)(q22;p22) mental retardation, primary amenorrhoa p22       MCN ID: 19860001-059 Edit
50 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 Edit
51 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; Edit
52 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; Edit
53 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 Edit
54 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; Edit
55 MCN_19940001-159 46, XY, t(1;5;7;12) arachnodactyly p22       MCN ID: 19940001-159 breakpoints: 5q12, 7p22, 1p36.1, 5q23, 12q14, 1p31; Edit
56 MCN_19970146-224 46, XY, t(6;7)(q13;p22) mental retardation, anteverted nostrils, hypertelorism, paresis of ocular muscles/squint p22       MCN ID: 19970146-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; Edit
57 12136233_6 46, XX, der(7)t(7;7)(p22;q36) de novo intrauterine growth retardation, left ventricular hypertrophy with significant septal hypertrophy of the heart, dysplasia of the right hip, significant muscular hypotonia, dysmorphic features, significantly wide-open fontanelle, speech delay, scoliosis, inspiration stridor because of partial tracheomalazia p22 q36     12136233 case 6 monosomy of 7q36-qter and trisomy of 7p22-pter Edit
58 Cantagrel_ESHG2003 46, XX, t(2;7)(q35;p22) de novo hydrocephaly [detected by US], partial syndactyly of digits and toes, polymicrogyria, nodular heterotopia p22       33 week-old fetus Cantagrel et al., ESHG 2003, P292 (ASHG 2004, Program #839) Edit
59 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
60 3874588 46, XY, der(7)t(2;7)(q3?;p22) de novo craniosynostosis, scaphocephaly, trigonocephaly, upslanting palpebral fissures, low set & poorly lobulated ears, large mouth with thin upper lip, short neck, wide-set hypoplastic nipples, small penis, hypospadias, general hypotonia, abnormal fingers and feet, died at 2.5 years of age p22       3874588, 7521123 case27 [7521123] monosomy of 7p22-pter Edit
61 15264281_2_patient 46, XY. ish der(4)t(4;7)(p16.3;p22)(D4F26-, D4S96-, D4S180/D4S412-) pat severe developmental delay, severe failure to thrive, high sloping forehead, small triangular face, hypertelorism, downward slanting palpebral fissures, epicanthal folds, iris heterochromia, small nose, microretrognathia, large ears, pit of the left ear helix, muscular hypotonia p22       15264281 patient 2 trisomy of 7p22-pter Edit
62 15264281_2_father 46, XY. ish t(4;7)(p16.3;p22)(CTB-164D18+, D4F26-, D4S96-, D4S180/D4S412-; D4F26+, D4S96+, D4S180/D4S412+, CTB-164D18-, D7S481+, D7S550+, CTB-3K23+) phenotypically normal p22   CTB-164D18/ D7S481   15264281 father of patient 2   Edit
63 15039973_DD8208944 46, XY, t(7;11)(p22;q23) pat reproductive difficulties p22       15039973 DD8208944   Edit
64 15039973_DD8103115 46, XY, der(7)t(7;20)(p22;p11) mat abnormal phenotype p22       15039973 DD8103115 monosomy of 7p22-pter Edit
65 6982670 46, XX, der(7)t(7;13)(p22;q14) mat mental and developmental retardation, hyperactive, no speech or walk at 2 years of age, bilateral nasal inferior coloboma of the iris, bilateral coloboma of both optic nerves, flattered nose, long philtrum, hypertelorism, bilateral epicanthus p22       6982670 proposita monosomy of 7p22-pter; mother, maternal grandmother, aunt and uncle had balanced t(7;13) Edit
66 12161591_17 46, XX, der(9). ish der(9)t(7;9)(p22;p24) de novo mental retardation p22       12161591 patient 12 trisoomy of 7p22-pter Edit
67 6711563 46,XX or XY, der(7)t(7;15)(p22;q23) mental retardation (8/8), growth retardation (6/8), microcephaly (5/8), facial asymmetry (7/7), prominent nose (7/8), high palate (7/7), micrognathia (4/6), scoliosis (7/7), cryptorchidism (only males), hyperextensible thumbs (5/5), congenital heart disease (4/8) p22       6711563 nine family members monosomy of 7p22-pter Edit
68 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
69 7120324 46, XX, t(7;22)(p22;q13) phenotypically normal; had a child with 47,XX,+del(22), and one with 46,XX,der(7)t(p22;q13) p22       7120324 mother J Med Genet. 1982 Aug;19(4):313 Edit
70 7120324_mother 46, XX, t(7;22)(p22;q13) phenotypically normal; had a child with 47,XX,+del(22), and one with 46,XX,der(7)t(p22;q13) p22       7120324 mother mother of 7120324_1 ( case 1) & case 2 with 47,XX,+del(22) Edit
71 7120324_1 46, XX, +22(q13->qtter) mat [46, XX, der(7)t(7;22)(p22;q13), assumed] unilateral cleft lip with cleft palate, low-set ears, microcephaly simian crease, rocker bottom feet; died 2 days after birth; truncus arteriosus with ventricular & atrial septal defects [autopsy] p22       7120324 case 1 monosomy of 7p22-pter?; aborted fetus of 7120324_mother Edit
72 6335372 46, XX, der(7)t(2;7)(q32.1;p22) mat microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils; died a few hours after birth p22       6335372   monosomy of 7p22-pter Edit
73 3976719_1 46, XX der(7)t(7;9)(p22;p13) mat developmental & growth retardation, antimongoloid slant of palpebral fissures, asymmetric anteverted & anteflexed angulated ears, large nose, down-turned corners of mouth, high palate, camptodactyly of II & III fingers, bilateral clinodactyly of 5th fingers, umbilical hernia, various infectious diseases during early infancy p22       3976719 patient 1 (S.V.M., proposita) sister of 3976719_2; monosomy of 7p22-pter; mother (I.M.) and sister (S.C.M.) had balanced t(7;9) and ptosis Edit
74 3976719_2 46, XY der(7)t(7;9)(p22;p13) mat typical facial appearance of dup(9) p22       3976719 patient 1 (J.M.) younger brother of 3976719_1 Edit
75 ECACC_94020205 46, XX, der(8)t(7;8)(p21.3;p23.1) mat phenotype abnormal p21.3       94020205 (cell line: DD1742) trisomy of 7p21.3-pter;; data unpublished; sister (DD1676) has FG syndrome (uncertain) Edit
76 10521304_6 46, XX, der(9)t(7;9)(p21.3;p22.1) de novo trigonocephaly, dysmorphic facial features p21.3       10521304 patient 6 (Group 1) trisomy of 7p21.3-pter Edit
77 NIGMS_GM11440 46, X?, der(5)t(5;7)(p15.1;p21.3) phenotype not given p21.3   D7S513/ SHGC-34183   GM 11440 trisomy of 7p21.3-pter; CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clone; data unpublished Edit
78 15039973_DD9305922 46, XY, der(8)t(7;8)(p21.3;p23.1) mat abnormal phenotype p21.3       15039973 DD9305922 trisomy of 7p21.3-pter Edit
79 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
80 8266989_proband 46, XY, t(2;7)(p23;p22) mat Saethre-Chotzen syndrome, turribrachycephaly, overlapping coronal and lambdoid sutures, open fontanelles, bifid uvula, moderate hearing loss, developmental delay p21.2   CTD-2110P21/ GDB:1318450   8266989, 7977380, 14513358 proband [8266989], M1389S [14513358], MCN ID: 19930014-999 breakpoint in a 10-kb region 260kb 3 Edit
81 7987323_2 46, XX, t(7;18)(p21.2;q23) mat craniosynostosis, brachycephaly, low-normal intelligence, Saethre-Chotzen syndrome p21.2   G49142/ RH99312   7987323, 9259286, 7783164 case2 [7987323], A:III-2 [7783164], MCN ID: 19950017-999 Edit
82 7987323_3 46, XX, t(5;7)(p15.3;p21.2) de novo hearing loss, craniosynostosis, brachycepahly, Saethre-Chotzen syndrome p21.2   G49142/ RH99312   7987323, 9259286, 7783164 case 3 [7987323], C:II-1 [7783164], MCN ID: 19950016-999 Edit
83 7987323_4 46, XY, t(2;7)(q21.1;p21.2) small ears with prominent crura, deviated nasal septum p21.2   D7S488/ D7S493   7987323, 9259286, 7783164 case 4 [7987323], family 2:II-2 [7987323] father of 7987323_4-daughter with classical Saethre-Chotzen Edit
84 8266988_1 46, XY, t(7;10)(p21.2;q21.2) pat Saethre-Chotzen syndrome p21.2   G49142/ RH99312   8266988, 9259286, 7987323 case 1 [7987323], MCN ID: 19930013-999 father (de novo) and daughter have same translocation and are similarly affected ; Edit
85 10494083 46, XY, der(21)t(7;21)(p21.2;q22.3) mat mental and physical retardation, larege anterior fontanel, brachycephaly, hypotonia, ocular hypertelorism, high narrow palate, small mandible p21.2       10494083, 12818527 propositus (case 42) trisomy of 7p21.2-pter; mothe had balanced t(7;21) Edit
86 7909651 46, XY, t(6;7)(q16.2;p15.3) de novo craniosynostosis, mild minor anomalies, mild developmental delay, fusion of the upper central incisors, high arched palate p21.2   D7S1683/ sts-Y10871   7909651, 7868123, 9215678, 12548740 case 20 [12548740] breakpoint lies at ~5 kb downstream of TWIST deleting 518 bp in sts-Y10871; molecular cytogenetic data is not consistent with karyotype Edit
87 9084937 46, XY, der(9)t(7;9)(p21.2;p23.5) de novo growth delay, psychomotor retardation, malformations and dysmorphic features, cryptorchid testes, hydronephrosis, bilateral choanal atresia p21.2       9084937, 10494083 case 41 [10494083] trisomy of 7p21.2-pter Edit
88 12706107 46, XX, t(1;7)(q41;p21) de novo Peters' anomaly, totally blind with no light perception p21.2   AC002088   12706107 propositus breakpoint at 7p21 was localized within intron 12 of HDAC9; propositus had three affected children from two husbands Edit
89 12818527 47, XY, +der(21)t(7;21)(p21;q21.3) mat infantile spasm, repeated upper respiratory tract infection and otitis, constipation, severe feeding problems, psychomotor development retardation, autistic, no speech at 12 y.o., muscular hypotonia, mild facial dysmorphism p21.2   D7S507/ D7S488   12818527   trisomy of 7p21-pter; mother and brother carry balanced t(7;21) Edit
90 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 Edit
91 ECACC_94070823 46, XY, t(7;11)(p21.2;q23.1) mat phenotype not given p21.2       94070823 (cell line: DD1975) fetus; mother has same karyotype and had three previous pregnancies resulting in miscarriage;; data unpublished Edit
92 7987323_4-daughter 46, XX, t(2;7)(q21.1;p21.2) pat classical Saethre-Chotzen syndrome, skull asymmetry, brachycephaly (but no overt CRS), cleft palate, ususual ears, mild syndactyly of the hand, broad big toes with mid-line furrows in the nails p21.2       7987323, 7783164 daughter of case 4 [7987323], family 2:III-2 [7987323], MCN ID: 19950015-999 daughter of 7987323_4; Edit
93 NIGMS_GM00633_2 46, XY, t(7;10)(p21.2;q11.21)del(7)(p21.2p22.1) congenital malformations; severe retardation p21.2       GM00663 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; see 1132253_1 & _2 (fibroblast from same proband) Edit
94 MCN_19890001-002 46, XY, ins(6)(p21.33;q23.3), t(7;13) de novo mental retardation p21.2       MCN ID: 19890001-002 breakpoints: 13q21.32, 6p21.33, 7p21.2, 13q22.3, 6q23.3, 13q14.13; Edit
95 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
96 1132253_2 46, XY, t(7;10)(p21.2;q11.21)del(7)(p21.2p22.1) congenital malformations, severe retardation p21.2       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: umgen; molecular data unpublished; see NIGMS_GM00633_ 1 & _2 (lymphoblast from same proband) Edit
97 15726498_2 46, XY, t(4;7;8;17)(4qter-> 4p15.2::17q25-> 17qter; 7qter-> 7p15::4p15.2-> 4pter; 8pter-> 8q12.2::7p21.2-> 7pter; 17pter-> 17q25::8q12.2-> 8qter) de novo [amniotic fluid] acampomelic campomelic dysplasia (CD), cleft palate, micrognathia, increased nuchal fold, prominent citerna magna, small mouth, posteriorly rotated ears, nail and digital abnormalities, skeletal anomalies, normal female external genitalia, ovaries devoid of oocytes, died of respiratory complications after 3 weeks p21.2 p15 RP11-764N24/ RP11-233O19   15726498 patient 2 Velagaleti et al., ASHG 2003, Program #807 & ASHG 2004, Program #946 Edit
98 16719278 46, XY. ish der(12)t(7;12) (p21.2;q24. 33)(SKY+, 7pTEL+, 12qTEL-) de novo hypotonia, moderate mental retardation, psychomotor developmental delay, cryptorchidism, inguinal hernia, hypertelorism, epicanthal folds, flat nasal bridge, microretrognathia, prominent square-shaped forehead, low-set ears; Dandy-Walker variant (brain MRI) p21.2       16719278   trisomy of 7p21.2-pter Edit
99 18568304 46,XY, der(9)t(7;9)(p21.2;p24.1).ishder(9)t(7;9)(wcp7+,9 pter-,7pter+)mat developmental delay, mental retardation, no speech, hypothyroidism, trigonocephaly with prominent forehead, hypertelorism, cleft palate, low-set ears, cryptorchidism, hypospadias, bilateral ptosis, bilateral coax valga deformity, right hip sublaxationlarge anterior fontanel, hypotonia, high frequency hearing loss, seizures, asthma, otitis media, enlarged aorta, seminoma p21.2       18568304 proband family history significant for birth defects and/or miscarriages Edit
100 11280946_4_1 46, XY, der(1)t(1;2;7;18)(q31.3;q24.3;p21.1;p11.3), der(2)t(1;2;7;18), der(7)t(1;2;7;18)t(7;8)(q21.2;q21.31), der(18)t(1;2;7;18)t(7;18) Saethre-Chotzen syndrome p21.1       11280946 patient 4   Edit