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 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
3 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
4 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
5 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
6 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
7 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
8 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
9 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, caf-au-lait spots p22       9660064, 10494083 case 47 [10494083] trisomy of 7p22-pter Edit
10 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
11 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
12 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
13 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
14 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
15 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
16 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; www.mcndb.org Edit
17 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
18 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
19 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
20 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
21 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
22 4043965 46, XY, del(7)(p15.3p21.3) craniosynostosis, brachycephaly, mental retardation, hypertelorism, left blepharoptosis, micrognathia, high arched palate, crytorchidism p21.3 p15.3     4043965, 1519644, 8411039, 7521123, 12548740 case 20 [7521123], case 16 [12548740]   Edit
23 11280950_patient 46, XX, der(2)ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) mat [inferred] mental retardation, long facies, hypertelorism, down-slanting palpebral fissures, prominent nasal bridge, large nose with columnella and nasal tip extending beyond hypoplastic ears, high narrow palate, micrognathia, hyperlaxity of elbows and interphalangeal joints, small dysplastic nails p21.3 p12.2     11280950 patient trisomy of 7p12.2-p21.3; daughter of 11280950_mother Edit
24 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
25 21480499_0100 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] autism, language problems, developmental delay, sensory problems, hyperactivity, large head circumference, intellectual disability p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0100, maternal cousin of 0101 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
26 9792856_SA 46, XY [del(7)(p21.1p21.2), not visible] Saethre-Chotzen syndrome, craniosynostosis, facial asymmetry, cleft palate, deviated nasal septum, ptosis, hypertelorism, brachdactyly, learning disabilities p21.2 p21.1 D7S507/ D7S488 D7S493/ D7S682 9792856 SA   Edit
27 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
28 11303510 46, XY, der(8)ins(8;7)(p23.1;p21p13) de novo delayed closure of larger anterior fontanelle, mental retardation, cardiac septal defect, long face, low-set ears, long nose with broad nasal bridge, bushy eyebrows, mild ptosis of eyelid, convergent strabismus, hypertelorism, deep and short philtrum, thin upper lip, small mouth, high arched and narrow palate, bifid uvula, kyphoscoliosis, thin ribs p21.2 p13 D7S664/ D7S2557   11303510   trisomy of 7p21.1-p13 (including the TWIST, HOXA, GLI3) Edit
29 9475103_1 46, XX, trp(7)(p21p22) de novo. ish trp(7)(p22p21)(wcp7+, c109A6+, D7S517+++, D7S513+++, D7Z1+) [der(7)(qter-> p22::p21.3-> p21.2::p15-> p22::p22->p ter)] growth and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p21.2 p22.3     9475103, 10494083 case 30 [10494083] triprication of p21.2-p22.3 Edit
30 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
31 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
32 22570644 4?,XY.arr (7p21.2p14.3)x1 de novo craniosynostosis, asymmetrical face, overlapping cranial sutures, hypertrichosis of forehead,low nasal bridge with anteverted nostrils, small palpebral fissures, hypertelorism with epicanthic folds, ptosis of the eyelids, low-set ears, underdeveloped helix, long smooth philtrum, high cleft palate, several limb anomalies, bilateral hypoplastic fifth fingers with clinodactyly, digital webbing, abnormal hand creases, short toes, long broad medially deviated halluces,hypoplastic scrotum, cryptorchidism, hypospadias, open foramen ovale, mild aortic insufficiency, apnea,abnormal sleep EEG, renal insufficiency, severe neurological deficits, died at 2 yrs. p21.2 p14.3     22570644   ~13Mb deletion; discussion of TWIST and HOXA as candidate genes Edit
33 Ohba1993_2 4?, X?, t(7;8)(p21.1;p23.2) mat [der(8)t(7;8)(p21.1;p23.2) or +der(8)t(7;8)(p21.1;p23.2) inferred] growth retardation, psychomotor retardation, hypertelorism, wide fontanels/sutures, high/prominent forehead, high arched palate/cleft p21.1       12818527, 10494083 case 2 [Ohba et al., 1993], case 1 [12818527], case 40 [10494083] trisomy of 7p21.1-pter; first reported in Ohba et al., 1993, Teratology 48: 502 Edit
34 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
35 6800299 46, XX, del(7)(p13p21) de novo psychomotor retardation, abnormal cranial shape, cerebral paresis, gand mal epilepsy, dysplasia of both kidneys, hypertrophy of the clitoris, interatrial septal defect p21 p13     6800299, 7116680, 1519644, 7521123, 9520255, 12548740 case 8 [7521123], case 17 [12548740]   Edit
36 1277574 45, XX, dic(7;15)(p21;p11) severe developmental delay, prominent forehead, hypertelorism, downward slant of the eyes, low-set ears, high arched palate, micrognathia, funnel chest, pes varus, died at 6 months p21       1277574, 539602, 7116680, 3874588, 7521123, 12548740 NIG 1925 [1277574], 7 in Table 1 [539602], case 11 [7521123], case 18 [12548740] monosomy of 7p21-pter Edit
37 11280946_1 47, XY, +mar(14) pat [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, prominent ear crus, hypertelorism, clinodactyly of the 5th finger, motor developmental delay, learning disabilities p21 p21     11280946 patient 1 FISH and dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
38 11280946_3 4?, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, prominent ear crus, hypertelorism, clinodactyly of the 5th finger, developmental delay, learning disabilities p21 p21     11280946 patient 3 dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
39 11280946_5 46, XY [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, prominent ear crus, hypertelorism, motor developmental delay, learning disabilities p21 p21     11280946 patient 5 dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST; son of patient 11280946_5B, sib of patient 11280946_5A Edit
40 11280946_5A 46, XY [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: prominent ear crus, hypertelorism, tear duct stenosis, partial duplication of the 1st toe p21 p21     11280946 patient 5A dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST; son of patient 11280946_5B, sib of patient 11280946_5 Edit
41 11280946_5B 46, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: prominent ear crus, hypertelorism, brachydactyly with broad thumbs and first toe p21 p21     11280946 patient 5B dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST, but it was not visualized by FISH; mother of patient 11280946_5 and 11280946_5A Edit
42 3359679_3 46, XX, der(18)t(7;18)(p21;p11) pat hypotonic, brachycephaly, mild hypertelorism, microphthalmia, high arched palate and macroglossia, micrognathia, prognathia, skeletal abnormalities p21       3359679, 2679090, 2692511, 10494083, 12818527 case 3 (B.III.8, Family B) [3359679], case 13 [2692511], case 37 [10494083] trisomy 7p21-pter; father had balanced t(7;18); sister of 3359679_2 Edit
43 3359679_2 46, XX, der(18)t(7;18)(p21;p11) pat severely hypotonic,mentally retarded, a number of dysmorphic features, brachycephaly, hypertelorism, microphthalmia, micrognathia, prognathia p21       3359679, 2679090, 2692511, 10494083, 12818527 case 2 (B.III.6, Family B) [3359679], case 12 [2692511], case 36 [10494083] trisomy 7p21-pter; father had balanced t(7;18); sister of 3359679_3 Edit
44 DGAP096 46, XY, t(3;7)(q23;p15.3), inv(10)(p11.23q25.3) developmental delay, VSD/ASD/PDA, question of laryngeal cleft, hydronephrosis and reflux, ventriculomegaly (in utero), Brachycephaly, deep-set eyes, epicanthal folds, large mouth, short nose, large ears, hypoplastic nasal root, short fingers, bilateral hydrocoeles, small umbilical hernia, peripheral hypertonia (at 19 mos), astrocytoma at 26 months of age, endocrine dysfunction secondary to astrocytoma p15.3       DGAP096 http://www.bwhpathology.org/d gap/ Edit
45 11562935 46, XY, der(Y)t(Y;7)(p11.32;p15.3) mentagrowth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, severe developmental delay l retardation p15.3       11562935   trisomy of 7p15.3-pter; TWIST gene is translocated onto der(Y) Edit
46 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
47 22565194 46,XX,del(7)(p15.3-p15.1).arr 7p15.3p15.1(20,469,062–30,5 82,316)×1 dn IUGR, feeding problems with episodes of cyanosis, failure to thrive, low implantation of ears, hypertelorism, oblique palpebral fissures, retrognathia, palate ogived, toe insertion anomalies, poor facial expression, mild axial hypotonia, mild psychomotor developmental delay, speech problems, patent ductusarteriosus, Legg–Calvé–Perthes disease p15.3 p15.1     22565194     Edit
48 23825006 46,XY.arr arr4q13.2q13.3(67,006,250-71,0 68,535)x1 dn,7p21.1p15.3(17,326,553-22,8 69,338)x1 dn [hg19] autistic behaviours, DD, Saethre–Chotzen syndrome, brachycephalicand acrocephalic head, facial asymmetry, high and narrow forehead, sparse and arched eyebrows, hypertelorism, bilateralblepharophimosis and ptosis, epicanthus inversus, depressedand deviated nasal bridge, anteverted nares, maxillaryhypoplasia, strabismus, low set and posteriorly angulated ear with uplifted lobe and prominent crus helixes, cutaneous syndactyly between 2nd and 3rd fingers p15.3 p21.1     23825006   5.5 Mb deletion; discussion of TWIST1 as candidate gene Edit
49 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
50 1895319_D3_2 46, XY, ins(7)(p15.1q11.21q11.23)del(7)(q21.2q22.1) de novo bilateral split hand/split foot, malformed ears, hyperterolism, mildly delayed speech, full-scale IQ of 84 p15.1       1895319, 8023840, 7987313, 7616545, 8782053, 15692208, 15732063 D3 [8023840, 7987313], ref. 10 [8782053]   Edit
51 MCN_19860006-089 46, XX, t(7;14)(p15.1;q22) de novo facies significantly abnormal, behaviour disorder/hyperactivity/p sychosis p15.1       MCN ID: 19860006-089 www.mcndb.org Edit
52 7296937_1 46, XX, del(7)(p13p15) de novo developmental retardation, blepharophimosis, mild hypertelorism, prominent forehead with ridged betopic suture (normal head circumference), small low set ears, bifid right toe p15 p13     7296937, 1519644, 7521123, 9321768, 9520255, 12548740 case 1 [7296937, 12548740], case 6 [7521123]   Edit
53 Schmidt_1987 4?, X?, der(9)t(7;9)(p15;p?) mat dolichocephalus, delayed closure of fontanels, high forehead, hypertelorism, microphthalmia, low-set ears with malformed auricles, low & broad nasal bridge, micrognathia, short neck, hypotonia, cardiac defects, simian crease p15       2692511, 10494083 case 4 [2692511], case 23 [Table 2, 10494083] trisomy of 7p15-pter; Schmidt & Gillessen-Kaesback, 1987, Ann Univ Sarav Med Suppl 7:271-272 Edit
54 2558067_BS 46, X, der(X)t(X;7)(q28;p15) de novo scaphocephaly, dysmorphic features, slight hypertelorism, hypotonic, severely retarded, high arched palate p15       2558067, 10494083 BS [2558067], case 25 [10494083] trisomy of 7p15-pter Edit
55 8839888 46, XY, der(8)t(7;8)(p15;p22) de novo psychomotor retardation, multiple congenital anomalies, hypertelorism, large floppy low-set ears with hypoplastic antelix, elongated philtrum, high palate, asymetrical hemithorax due to right convex scoliosis, pigeon-chest and hunch-back, abnormal position of the 4th and 5th toes bilaterally and equino-vari feet, cryptorchidism with hypoplasia of the external genitals, retarded bone age p15       8839888, 10494083 CS [8839888], case 28 [10494083] trisomy of 7p15-pter Edit
56 10766985 46, XX, der(9)t(7;9)(p15;p24). ish der(9)t(7;9)(wcp7+, wcp9+) high/large forehead, hypertelorism, braod nasal bridge, hypothyroidism, obesity, cerebral palsy p15       10766985   trisomy of 7p15-pter Edit
57 Willner_1977 4?, X?, der(5)t(5;7)(q?;p15) pat asymmetry cranium, delayed closure of fontanels, hypertelorism, low-set ears, choanal atresia, micrognathia, malposition of feet, arachnodactyly, contractures of fingers joints p15       2692511, 10494083 case 8 [2692511], case 19 [Table 2, 10494083] trisomy of 7p15-pter; Willner et al., 1977, Pediatr Res 11(?):530 Edit
58 12736870_1 46, X, t(X;7)(p22.3;p15)mat infantile spasms, motor retardation, profound mental retardation, generalized hypotonia, hypertelorism, high nasal bridge, abnormal ears, low posterior hairline, simian crease, hypsarrhythmia p15       12736870 patient 1   Edit
59 MCN_19990007-227 46, XX .rev ish dim(7p15p15) de novo small hand, abnormal ear shape/structure, hypertelorism, frontal bossing, short foot (including brachydactyly), large fontanelle, retroverted ears, other clinodactyly of fingers, low set ears p15 p15     MCN ID: 19990007-227 www.mcndb.org Edit
60 MCN_19920001-041 46, XY, t(2;7)(q23;p15) Mental retardation of any degree, low hairline - back, abnormal ear shape/structure, epicanthic folds, hypertelorism, clinodactyly of 5th finger, low set ears, high vaulted and narrow palate p15       MCN ID: 19920001-041 www.mcndb.org Edit
61 MCN_19970142-224 46, XY, t(7;8)(p15;q22) mental retardation, anteverted nostrils, structural asymmetry of face, hypertelorism, microcephaly, paresis of ocular muscles/squint, abnormal tooth position/malocclusion/o pen bite p15       MCN ID: 19970142-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
62 MCN_19990022-292 46, XY, t(7;13)(p15;q32) mental retardation, hypertelorism p15       MCN ID: 19990022-292 www.mcndb.org Edit
63 9475103_2 46, XX, trp(7)(p21p22) de novo. ish trp(7)(p22p21)(wcp7+, c109A6+, D7S517+++, D7S513+++, D7Z1+) [der(7)(qter-> p22::p21.3-> p21.2::p15-> p22::p22->pter)] growth and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p15 p22   D7S517 9475103, 10494083 case 30 [10494083] triplication of p15-p22 Edit
64 1981052_BC 46, XY, del(7)(p12.3p14.2) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation p14.2 p12.3 AC073068/ AC006033 AC095067 1981052, 7521123, 9520255, 11484201, 16829355 BC [1981052], case 2 [7521123], C [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
65 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
66 2679090_1 46, XY, der(15)t(7;15)(p14;q26) pat multiple congenital anomalies, hypertelorism, jaundice, hypocalcemia, congestive heart failure, apnea, bradycardia, seizures p14       2679090, 8839888, 10494083 patient 1 [2679090], Ref. 14 [8839888], case 17 [10494083] trisomy of 7p14-pter; father had balanced t(7;15) Edit
67 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
68 MCN_19920001-049 46, XX, t(7;13)(p14;q32) ptosis, hypertelorism, ridged metopic suture/trigonocephaly p14       MCN ID: 19920001-049 www.mcndb.org Edit
69 1981052_IR_2 46, XY, t(7;20)(p11.2;p11.2)del(7)(p11.2p13) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation, spasm and epileptic seizures, hirsutism of the face, back and legs p13 p11.2 7Gr395mb/ CDC2L5 D7S2542/ SEC61G$ 1981052, 7521123, 9520255, 11484201, 16829355 IR [1981052], case 1 [7521123], D [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
70 3359679_D 46, XX, der(7)t(3;7)(p25;p13) mat [inferred] coarse facies, craniosynostosis, hypertelorism, micrognathia, cleft palate, cardiovascular anomalies, uterus and vagina duplex, died at 13 days of age p13       3359679 D.IV.5, Family D monosomy of 7p13-pter, inferred; mother (D.III.3) and maternal garndmother (D.II.15) had balanced t(3;7) Edit
71 6535858 46, XX, der(7)(21qter-> 21q22::7cen-> 7qter), der(10)(10pter->10p12::21pter-> 21p11::10p12-> 10qter), der(14)(14pter-> 14q32:), der(21)(14qter-> 14q32::7p13-> 7cen::21p11-> 21q22::7p13-> 7pter) de novo hypertelorism, blepharophimosis, brachydactyly, clinodactyly p13 cen     6535858, 1327590   karyotype was infered from idiogram & description Edit
72 6316787_1 46, XX, t(3;7)(p21.1;p13) pat Greig cephalopolysyndactyly syndrome, hypertelorism, an extra great toe on each foot, brachycephaly p13   D7S691/ GDB:1317704   6316787, 2545596, 1650914, 1663489 patient 1 (proposita, IV-7) [6316787], 1863 [1650914, 1663489], MCN ID : 19810003-001 sister of 6316787_2 & 3; www.mcndb.org Edit
73 6316787_2 46, XY, t(3;7)(p21.1;p13) pat Greig cephalopolysyndactyly syndrome, hypertelorism, an extra great toe on each foot, extra thumb on each hand p13       6316787 patient 2 (IV-6) [6316787] brother of 6316787_1 & 3 Edit
74 MCN_19970011-281 46, XY, inv(7)(p13q21) de novo spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, terminal broadening fingers/clubbing p13 q21     MCN ID: 19970011-281 www.mcndb.org Edit
75 MCN_19970027-224 46, XX, t(1;7)(q31;p13) facies significantly abnormal, mental retardation, depressed nasal bridge, syndactyly of fingers, hypertelorism, umbilical hernia, paresis of ocular muscles/squint, hypotonia p13       MCN ID: 19970027-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
76 MCN_19900001-121 46, XX, t(1;7)(p31.2;p13) de novo mental retardation, behaviour disorder/hyperactivity/p sychosis p13       MCN ID: 19900001-121 www.mcndb.org Edit
77 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
78 16317299_1 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass p13 - 14       16317299   trisomy of 7p detected by FISH (seen in only skin fibroblast) Edit
79 8166428 46, XY, der(10)t(7;10)(p12;p15) de novo hypertelorism, ventricular septal defect, bilateral cleft lip/palate, hypospadias, imperforate anus, cryptorchidism, cardiac anomalies p12       8166428, 8839888, 10494083 Ref. 14 [8839888], case 9 [10494083] trisomy of 7p12-pter Edit
80 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
81 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
82 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
83 1981052_IR_1 46, XY, t(7;20)(p11.2;p11.2)del(7)(p11.2p13) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation, spasm and epileptic seizures, hirsutism of the face, back and legs p11.2   D7S2542/ SEC61G$   1981052, 7521123, 9520255, 11484201, 16829355 IR [1981052], case 1 [7521123], D [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
84 Unpublished_31380 46,XY,t(4;6)(q35;q27)t(7;9)(p13;p22) developmental delay, facial asymmetry, prominent forehead, hypertelorism with bilat downslanting palp. fissues, bilat. ptosis, bilat. malar flattening, single transverse palmar crease and bilat. 5th digit clinodactyly, right thumb in adducted position, mild pectus carinatum, relative macrocephaly 7p11.2   RP11-678B3/ G249P80040G8   31380   Edit
85 18852357_2 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips, micrognathia with pointed chin, low posterior-rotated and overfolded ears p11.2 q11.21 RP5-1091E12 RP11-340I6 18852357     Edit
86 18852357_1 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips,micrognathia with pointed chin, low posterior-rotated andoverfolded ears p11.2 q11.21 RP5-1091E12 RP11-340I6 18852357     Edit
87 3631140 46, XX, der(11)t(7;11)(p11.1;p15.5) mat craniocerebral asymmetry, carniosynostosis, arhinencephaly, hypertelorism, ventricular septal defect, hypoplastic genitalia, minor limb malformations p11.1       3631140, 2679090, 2692511, 10494083 case 3 [2692511], case 6 [10494083] trisomy of 7p11.1-pter; mother had balanced t(7;11) Edit
88 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
89 699358_proband 46, XY, der(14)t(7;14)(p11;p11) mat dolicocephaly, wide fontanelle, hypertelorism, antimongoloid slanting of the palpebral fissures, congenital dislocation of the shoulders and hips, possible cardiac defect, mental retardation p11       699358, 7083611, 2679090, 2692511, 2363431, 10494083 proband [699358], case 2 [2692511], case 4 [10494083] trisomy of 7p11-pter Edit
90 2080099 46, XX, der(14)t(7;14)(p11;p11) pat dolicocephaly, hypertelorism, craniopalaoskisis, dysmorphic hands, hypoplasia of the labia majora, aplasia of the labia minora, prominent clitoris p11       2080099, 10494083 case 3 [10494083] trisomy 7p11-pter; father and grandfather had balanced t(7;14) Edit
91 MCN_19920001-092 46, XY, t(5;7;8)(q11;p11;p11) de novo spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, short neck, broad nasal bridge, hearing abnormal congenital/a cquired, visual loss - severe, abnormal vision, mouth held open p11       MCN ID: 19920001-092 www.mcndb.org Edit
92 MCN_19800001-004 46, XY, t(5;7)(p15.3;p11) anteverted nostrils, abnormal epiglottis, hypertelorism, microcephaly, any vertebral defect, preauricular tags/ear pits/sinuses, seizures p11       MCN ID:19800001-004 www.mcndb.org Edit
93 11140412_2 46, XX, der(13)t(7;13)(p11;p11) de novo hypertelorism short upturned nose and flat nasal bridge, dolichocephaly, hypoplastic nipples, hypoplastic scrotum and short penis, dislocated hips, clinodactyly of II-V fingers, large VSD, ASD (type II), valvular pulmonary stenosis, general hypotonia, developmental delay p11       11140412 patient 2 trisomy of 7p11-pter Edit
94 3879440_proband 46, XY, del(7)(cenq21) mat flat face with hypertelorism, broad nose, anteverted nares, right-sided choanal atresia, left-sided cleft lip, retrognathia, large low-set and malformed ears, micropenis, bilateral cryptorchidy, severe heart malformations, absence of right adrenal gland cen q21     3879440, 2194394, 1456281 WS, proband [3879440], case 1 [2194394, 1456281] child of 3879440_mother, brother of 3879440_brother Edit
95 9415687_proband_2 46, XY, rec(7)dup(7q) inv(7)(p22q22) pat chrondrodysplasia punctata, ocular hypertelorism, atrial septal defect, scoliosis, microretrognathia, low and malformed ears, inguinal hernia pter p22     9415687, 11113903, 11536263 proband monosomy of 7p22-pter & trisomy of 7q22-qter Edit
96 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
97 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
98 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
99 7942853 46, XX, upd(7) pat congenital chloride diarrhea, distended abdomen, watery diarrhea, marked hyperbilirubinemia, mild hearing loss pter qter     7942853, 11352560, LGL4588 [7942853, 11352560], patient 16 [] isodisomy Edit
100 Shimizu_A413 47, XX, +7p dysmorphic face, congenital heart defects, arched eyebrows, hypertelorism, low-set and malformed ears, broad nose, micrognathia, highly arched palate, short and webbed neck, hip joint dislocation and overlapped fingers pter p10       Shimizu et al., abstract, A413 Edit
101 7390476 47, XX, +7 de novo Potter syndrome, hypertelorism, depressed nasal bridge, low-set ears, micrognathia, short neck, narrow pelvis, bilateral clubfoot, hypotonicity, anal imperforation, abnormal external genitals, no opening to vagina, vertebral abnormalities, polycystic and hydronephrotic kidney, hypoplastic lungs pter qter     7390476, 6733951, 10594874, 12407716   twin brother had normal karyotype Edit
102 10594873 47, XY, +7 [28]/46, XY [7] [skin] linear and whorled nevoid hypermelanosis, hypomelanosis of Ito, Dandy-Walker variant, developmental delay, hypotonia, pyschomotor delay, heart defect (PDA & VSD), asymmetric ptosis, short downslanting palpebral fissures, sparse eyelashes pter qter     10594873, 10594874     Edit
103 9074418_UPN1225 45, XX, -7 [20] chronic myelomonocytic leukaemia (5% myeloblasts, 16% monocytes and precursors), hypercellular marrow pter qter     9074418 UPN 1225   Edit
104 12681970_9 LOH(7) acute myeloid leukemia   q33 D7S530/ D7S640 D7S640/ D7S631 12681970 9 hyperdiploidy Edit
105 4518278_2 46, XX, t(2p-;7p+q-) de novo [assumed: t(2;7)(p?;q?)del(7)(qter)] stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism, abnormal neurological findings, hypertelorism qter qter     4518278, 631854, 537019, 6758992, 8135290 JG [4518278], case 13 [537019, 6758992] telomeric deletion Edit
106 MCN_19820001-004 46, XY, t(7;18)(p?;q?) mental retardation, autism, behaviour disorder/hyperactivity/p sychosis pter p10     MCN ID: 19820001-004 www.mcndb.org Edit
107 15337469_2 47, XY, +mar. ish r(p?q?)(D7Z1+, ELN+) [48]/ r(7)(D7Z1++, ELN++) [2] de novo / 46, XY [50] borderline performance, obesity, hyperactivity with fits of anger, speech difficulties, hypertelorism, down-slanting palpebral fissures, IQ of 80 pter q11.2     15337469 case 2 in 2% of the cells analyzed, maker r(7) was duplicated and dicentric (D7Z1, ELN) Edit
108 5301761 46, XX, Cp+ [dup(7p) or add(7)(p?) inferred]/ 46, XX developmental delay, micrognathia, large low-set ears, hyperflexibility of fingers, prevalence of digital whorl patterns, high absolute ridge count, VSD pter p10     5301761, 5314802, 7083611, 2679090, 2692511, 2363431, 8839888, 9297445 case 5 [2692511], Ref. 7 [8839888], case 1 [9297445] trisomy of 7p13-pter? Edit
109 16092121 47, XX, +7 [12]/ 45, X [2] hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, buphthalmos of the left eye, mild mental retardation pter qter     16092121     Edit
110 5420797 47, X?, +C de novo [possibly, +7] flattened nasal bridge, epicanthic folds, micrognathia, low-set ears, midline cleft palate, hyperextensible joints, bilateral hip dislocation, bilateral polycystic disease of the kidneys (type II), polycystic ovaries, died one hour after birth pter qter     5420797, 6733951, 10594874     Edit
111 16317299_2 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass pter qter     16317299   mosaicism for monosomy 7 suggested by microarry gene copy number (50% of blood cells); the other 50% carried two complete copies of chr. 7 that exhibited segemantal UPD(7) Edit
112 11102936 47, XY, +7 [43%]/ 46, XY [57%] [skin]
47, XY, +7 [3%]/ 46, XY [97%] [skin, second culture]
46, XY [100%] [blood]
developmental delay, asymmetrical growth, mixed receptive-expressive language disorder, Blaschkolinear skin pigmentary changes (hypo-/hyperpigmentation), aggressive behaviour pter qter     11102936 JB   Edit
113 11715006_2 46, XX. ish der(18)t(7;18)(ptel;qtel) profound mental retardation, severe growth restriction, failure to undergo puberty, behavior problems; microcephaly, cleft palate, bilateral ptosis, hypertelorism, epicanthal folds, wide low nasal bridge, anteverted nares, downturned corners of the mouth, camptodactyly of the fingers, scoliosis, bilateral talipes equinovarus; pulmonary stenosis, wasting of the calf muscles, hypotonia, severe periodontal disease; hypothyroidism at age 15 pter pter     11715006 case 2 trisomy of 7pter; mother had balanced t(7;11) detected by SKY Edit
114 18852357_3 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips,micrognathia with pointed chin, low posterior-rotated andoverfolded ears pter qter     18852357   maternal disomy took the form of heterodisomy Edit
115 19647853_5_1 4?,XX.arr 7p15.2(1-25,996,000)x3,7 q21.3q31.31(93,033,000-119,835,0 00)x3,7q11.21q11.23(61,960,0 00-74,706,000)x1,7 q31.31q33(119,981,000-136,810,0 00)x1 Splenic marginal zone B-cell lymphoma, hepatitis C virus infection, progressivechemotherapy-refractory disease, hyperleukocytosisand aggressive disease pter p15.2     19647853 UPN 5 NCBI build 35 Edit
116 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
117 23040944 prenatal: 47,XX,+7[3]/46,X X[22] IUGR, microcephaly, ventriculomegaly, micrognathia, narrow chest, oligohydramnios, hypertelorism, micrognathia, depressed nasal bridge, low-set ears, intrauterine fetal death at 31 weeks pter qter     23040944     Edit
118 4349228 46, X, t(Y;7)(q?;q?) microcephaly, marked hypertelorism, bilateral epicanthal folds, flat notched nose q10 qter     4349228, 1086632 KT   Edit
119 4518278_1 46, XX, t(2p-;7p+q-) de novo [assumed: t(2;7)(p?;q?)del(7)(qter)] stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism, abnormal neurological findings, hypertelorism q10 qter     4518278, 631854, 537019, 6758992, 8135290 JG [4518278], case 13 [537019, 6758992]   Edit
120 MCN_20000006-047 46, XX, t(4;7;14)(p15.2;q11;q24.1) de novo mental retardation, abnormal tooth position/malocclusion/o pen bite, hyperextensible/h ypermobile joints q11       MCN ID: 20000006-047 www.mcndb.org Edit
121 MCN_19970065-224 46, XX, t(6;7)(q25;q11) mental retardation, abnormal ear shape/structure, hypertelorism, high vaulted and narrow palate, small face q11       MCN ID:19970065-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
122 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
123 NIGMS_GM07081/GM07082 46, XY, -15, +der(7)t(7;15)(q11.2;q11.2) mat microcephaly, hypertelorism, cleft palate and gingiva, left club foot, large fontanelle, congenital dislocation of shoulders and hips, congenital heart disease, failure to thrive, and developmental delay q11.2       GM07081 (skin), GM07082 (lung) trisomy of 7q11.2-qter; fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
124 15316975 46, XX, t(1;12)(p22.3;q21.3), der(6)(pter-> p23::q21-> q22.3::q21-> p23::q22.3-> qter), t(7;18)(q11.2;q21.2) de novo IUGR, feeding difficulties, gastroesophageal reflux disease, peripheral pulmonic stenosis, omphalocele, high myopia, severe mental retardation, dysmorphic features, hypertonia q11.2       15316975 MCN ID: 20040001-999 www.mcndb.org Edit
125 15715967 46, XY, t(7;19)(q11.2;q13.3) de novo Wilms tumor (bilateral), thick corpus callosum, hypertelorism, micrognathia, microstomia, abnormally-developed low-set ears q11.2       16193462 fetus; MCN ID: 20050005-999 www.mcndb.org Edit
126 1895319_D3_1 46, XY, ins(7)(p15.1q11.21q11.23)del(7)(q21.2q22.1) de novo bilateral split hand/split foot, malformed ears, hyperterolism, mildly delayed speech, full-scale IQ of 84 q11.21 q11.23     1895319, 8023840, 7987313, 7616545, 8782053, 15692208, 15732063 D3 [8023840, 7987313], ref. 10 [8782053]   Edit
127 19647853_5_3 4?,XX.arr 7p15.2(1-25,996,000)x3,7 q21.3q31.31(93,033,000-119,835,0 00)x3,7q11.21q11.23(61,960,0 00-74,706,000)x1,7 q31.31q33(119,981,000-136,810,0 00)x1 Splenic marginal zone B-cell lymphoma, hepatitis C virus infection, progressivechemotherapy-refractory disease, hyperleukocytosisand aggressive disease q11.21 q11.23     19647853 UPN 5 NCBI build 35 Edit
128 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
129 8879652 46, X, der(X)t(X;7)(q13- 13.2;q11.23-21.11) de novo macrocephaly, axial hypotonia, lower limb hypertonia, hyperactive reflexes, high arched palate, scoliosis q11.23 - 21.11       8879652   trisomy of q11.23 or q21.11-qter Edit
130 11685205_12503 46, XX. WBSinv-1 [de novo, detected by FISH] Williams syndrome: WBS facies, malocclusion, strabismus, joint tightness, hypersensitivity to sound, WBS-like behavior profile, developmental delay q11.23 q11.23 D7S672/ D7S2479 D7S1870/ D7S715 11685205 12503   Edit
131 Unpublished_17495 46, XX, WBS INV-II Williams syndrome-like, dsymorphic features, growth retardation, developmental delay, hypersensitivity to sound q11.23 q11.23 D7S613/ D7S1870 D7S2490/ D7S1440 12690205 17495   Edit
132 MCN_20000001-133 46, XX, t(1;7)(q21.3;q11.23) mat facies significantly abnormal, mental retardation, speech defect, frontal bossing, talipes - varus/valgus, anteverted/prominent/b at ears, ear cartilage deficiency, behaviour disorder/hyperactivity/p sychosis q11.23       MCN ID: 20000001-133 www.mcndb.org Edit
133 15732063 46, XX, del(7)(q21.1q21.3) de novo IUGR, psychomotor developmental delay, mild facial dysmorphism including midfacial hypoplasia, thin upper lip, everted lower lip, microretrognathia, flat broad nasal bridge, hypertelorism, low-set ears, and palpebral ptosis of the right eye, infantile spasms q11.23 q21.3 RP11-441N19/ D7S2517 RP11-455I9/ COL1A2 15732063, 18565486 case 23 [18565486] ~16 Mb deletion disrupting MAGI2 gene detected by microsatellite markers Edit
134 18565486_1 del(7)(q11.23q11.23) [detected by microarray] Williams syndrome, severe hypercalcemia q11.23 q11.23     18565486 1 ~3.4 Mb deletion Edit
135 16317299_3 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass q11.23 qter D7S1870/ D7S669   16317299   segmental maternal UPD (isodisomy, only seen in blood sample) detected by microsatellite analysis & microarray analysis Edit
136 16317299_4 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass q11.23 q11.23 SNP_A-1518210/ SNP_A-1517101 SNP_A-1516005/ D7S1870 16317299   7q LOH indicated by microsatellite analysis & microarray analysis (seen only in blood sample) Edit
137 15633183 46, XY, del(7)(q11.23q11.23) de novo [detected by microsatellite analysis] cryptogenic West syndrome (psychomotor delay, EEG pattern of hyperarrhythmia), heart defect (interventicular communication), hoarse cry, lack of visual responsiveness, bilateral cochlear hypoacusia, hypotonia, WBS features (large ears, thick lips, upturned nose), no SVAS q11.23 q11.23 D7S672/ D7S613 D7S1870/ D7S2490 15633183   deletion of paternal origin Edit
138 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
139 17400790 46,XY, dup(7)(q11.23q11.23) de novo [detected by qPCR] autistic disorder, severe speech impairment, mental retardation, hypersensitivity to noise, mild dysmorphic features, delayed motor acquisitions q11.23 q11.23 D7S672/ FKBP6 GTF2I/ HIP1 17400790 17400790 de novo and of paternal origin Edit
140 19568270_WBS207 46,XY,del(7)(q11.23q11.23)de novo mild Williams syndrome, normal IQ, mild SVAS, hypermetropic astigmatism, convergent strabismus, bitemporal narrowing, broad forehead, short upturned nose with bulbous tip, long philtrum, full lips, bilateral clinodactyly, hoarse voice, mild limitation of supination and pronation of the forearm, valgus flatfoot, knock knees q11.23 q11.23 BAZ1B CLIP2/GTF2IRD1 19568270 WBS207 atypical deletion of ~1 Mb, bp lies between exon 3 and 4 of BAZ1B, excludes GTF2IRD1, GTF2I and 3' end of BAZ1B Edit
141 23871472_50311 4?,XY.arr 7q11.23 (72,337,532-73,780,0 40)x3 schizophrenia, hypertension, alcohol dependence; depressive disorder NOS q11.23 q11.23     23871472 50311 ~1.44 Mb duplication Edit
142 23756441_179 4?,XX.arr (7q11.23)x1 de novo [hg19] autistic traits/PDD, Williams syndrome, IUGR, developmental delay, ID, self-injurious acts, impulsivity, hyperactivity,a ggression, valvular and supravalvular pulmonary stenosis, strabismus, microcephaly, small teeth, umbilical hernia q11.23 q11.23     23756441 Patient WBS179 ~3.5 Mb deletion Edit
143 23756441_166 4?,XY.arr 7q11.23(72,974,959-74,005,3 14)x1 de novo [hg19] Williams syndrome, ID, SVAS, pulmonary stenosis, hypertension, flat face, narrowpalpebral fissures, malar hypoplasia, thick everted lower lip, low-setears, narrow shoulders q11.23 q11.23     23756441 Patient WBS166 ~1.03 Mb deletion; older brother was deceased after cardiac surgery for transposition of the great arteries with ventricular septal defect Edit
144 991439 46, XX, del(7)(q21q32) [or del(7)(q22q32) [NIGMS]] multiple congenital anomalies, hypertonia, seizures, early feeding difficulties, developmental delay, microcephaly, low-set ears, large mouth, micrognathia, heart defect (VSD) q21 q32     991439, 631854, 537019, 6758992, 7154049, 3879441, 3456704, 3472464, 2903665, 3354600, 2301476, 11045577 GM1059 (GM01059), case 16 [537019], case 9 [6758992], ref. 1 [7154049], ref. C [2301476] de novo or pat; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
145 3409538_1 46, XX, der(5)t(5;7)(p14;q21) mat macrocephaly, hypertelorism, microretrognathia, severe hypotonia, cerebral malformations, many dysmorphic features, died at 38 hours after birth q21       3409538, 11113903, 11536263 case 1 (Modena) trisomy of 7q21-qter; mother had balanced t(5;7) Edit
146 3409538_2 46, XY, der(13)t(7;13)(q21;q33) pat macrocephaly, hypertelorism, microretrognathia, cleft palate, many dysmorphic features, died at 23 hours after birth q21       3409538, 11536263 case 2 (Milan) trisomy of 7q21-qter; father had balanced t(7;13) Edit
147 MCN_19900003-023 46, XX, t(1;7)(p31;q21) pat mental retardation, sacral sinus/dimple/n odule, klitorishypertrofia q21       MCN ID: 19900003-023 www.mcndb.org Edit
148 730173_patient 46, XX, del(7)(q21q32) mat seizures, peculiar facies with hypertelorism, small palpebral fissures with upward slnat, bilateral hydrophthalmos, low-set and malformed ears, bulbous cheeks, large down-turned mouth, short neck, preisthmic aortic stenosis, VSD, congenital glaucoma, died of heart failure at 39 days of age q21 q32     730173, 537019, 7228036, 6758992, 7154049, 3354600, 2301476, 8379441, 11045577 patient M. Rosalba [730173], case 17 [537019], case 10 [6758992], ref. 3 [7154049], ref. E [2301476] mother and maternal grandmother had ins(5;7)(q14;q32q21) Edit
149 Verela_1981 46, XY, der(5)t(5;7)(p14;q21) mat psychomotor retardation, hypertelorism, micro/retrognathia, low-set ears, malformed ears, cleft palate, VSD q21 qter     11536263, 11536263, 12407716   mother had balanced t(5;7); first reported in Varela et al, Jerusalem Conference of Human Genetics, 1981 Edit
150 16086437_fetus 46, XY, der(9)(7qter-> 7q21::9p24-> 9qter)t(9;7;11) mat right club foot, multilobated lung, ectopic kidney, flattened nose, micrognathia, hypertelorism, long philtrum, low-set ears, shot neck, sex reverse, cerebellar hypoplasia, hydrocephalus ex vasuo, incomplete intestinal rotation q21       16086437 19-week-old fetus trisomy of 7q21-qter & monosomy 9p24-pter Edit
151 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
152 19449426_1 46,XX,t(7;15)(q21;q15),t (9;14)(q21q11.2)dn.arr 7q21.3(96,215,406-97,593,2 99)x1,(15q21.1q21.2)x1 bilateral split-foot malformation, micrognathia, full lower lip, strabismus, stenosis of bilateral ear canals, severe mixed type deafness, developmental delays, self-injurious, hyperactive, sleep disorders q21   RP11-15F5   19449426     Edit
153 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
154 3228144 46, XX, del(7)(q21.1q22) de novo prominent occiput, small face, almond-shaped palpebral fissures, prominent nasal bridge, long nose, long and flat philrum, small prominent ears, small down-turned mouth, high arched palate, retrognathia, sacral dimple with V-shaped skin fold, abnormally small optic nerves, severe gastroesophageal reflux, peribronchial thickening, hypertonic, developmental delay q21.1 q22     3228144, 2301476, 1456281, 15732063 ref. M [2301476], case 19 [1456281]   Edit
155 Unpublished_51 XY, dup(7)(q21.1q34) chronic lung disease, pulmonary hypertension, developmental delay q21.1 q34     51 data unpublished Edit
156 Morales_ESHG2005_1 46, XY, dup(7)(q21.1q31.3) [90%]/ 46, XY, del(7)(q21.1q31.3) [10%] de novo microretrognathia, low & dysplastic ears, short neck, small mouth, cutaneous syndactyly of 2nd & 3rd toes, hip dislocation, long fingers with metacarpo-falangeal & interfalangeal articulations hyperextensibility q21.1 q31.3     newborn male Morales et al., ESHG, 2005, #P0330 Edit
157 Morales_ESHG2005_2 46, XY, dup(7)(q21.1q31.3) [90%]/ 46, XY, del(7)(q21.1q31.3) [10%] de novo microretrognathia, low & dysplastic ears, short neck, small mouth, cutaneous syndactyly of 2nd & 3rd toes, hip dislocation, long fingers with metacarpo-falangeal & interfalangeal articulations hyperextensibility q21.1 q31.3     newborn male Morales et al., ESHG, 2005, #P0330 Edit
158 16080295 del(7)(q21.1q22) de novo growth retardation, mental retardation, mild microcephaly, hypersensitivity to noise, mild spasticity, short palpebral fissures, alternant exotropia, compensated hypermetropic astigmatism, hypotelorism, hypoplastic labia majora and minora, clinodactyly of fingers 4 and 5 q21.1 q22     16080295, 18565486 case 26 [18565486] ~3 Mb deletion disrupting MAGI2 gene detected by microarray Edit
159 Clark_ACMG2007_2 46,XY,t(7;11)(q21.1;p14)de novo.arr (5p15.2)x1,( 7q21.1)x1 mild hypercalcemia, gastroesophageal reflux, constipation, feeding difficulties, bicuspid pulmonary valve, supravalvar pulmonic stenosis, hypotonia, developmental delay, microcephaly,b ifrontal narrowing, puffiness of upper eyelids, stellate iris pattern,downslanting palpebral fissures, small nose with bulbous tip, wide mouth with tented upper lip, mildmicrognathia, simplified ear helices, sacral dimple, anterior placed anus, small phallus, hypoplasia of the thenareminences with adducted thumbs, small feet q21.1         Clark et al., ACMG2007, Program #175 Edit
160 3499842 46, XX, del(7)(q21.11q21.3) de novo moderate mental retardation, psychomotor retardation, developmental retardation, mild craniofacial dysmorphism with round, slightly asymmetric face, marked midfacial hypoplasia with hypertelorism, epicanthus, slight palpebral ptosis of the left eye; flat, broad nasal bridge, folded ears, short neck q21.11 q21.3     3499842, 2194394, 1456281, 15732063 case 14 [2194394], case 16 [1456281]   Edit
161 14679581_3_1 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32->7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q21.11 q21.11 RP-4-802A/ RP5-897G10 RP4-649P17/ RP11-727N2 14679581, 16470734 patient 3   Edit
162 14679581_3_2 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32-> 7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q21.11   RP5-897G10/ RP4-649P17   14679581, 16470734 patient 3   Edit
163 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
164 6199974_4 46, XX, del(7)(q21.12q22.1) de novo developmental delay, brachycephalic skull with aysmmetric depressions in the occipital regions, prominent metopic suture, flat nasal bridge, flat small nose, bilateral epicanthal folds, Brushfield spots, very small ears, high palate, conical canine teeth, hyperconcave toenails q21.12 q22.1     6199974, 3228144, 2194394, 1456281, 2301476, 15732063 patient 4 [6199974], case 15 [2194394], case 18 [1456281], ref. J5 [2301476]   Edit
165 19864897 46,XX,inv(7)(q21.12q34)dn.arr 3p12.3p13(73,200,000-79,000,0 00)x1 dn neurodevelopmental delay, growth retardation, broad forehead, hypertelorism, broad nasal bridge, microretrognatia, pointed chin, hypophysishypoplasia, gastroesophageal reflux, clinodactyly, preauricular appendix, myopia q21.12 q34     19864897   discussion of ROBO1 , ROBO2 , PDZRN3 and CNTN3 as candidate genes Edit
166 18651096 46,XY,t(7;9)(q21;p23)de novo [cryptic del(7)(q21.13q21.3), del(9)(p24.1p22.3) detected] myoclonus-dystonia, IUGR, anal stenosis, phimosis, nonobstructive septal subaortic hypertrophy, dystonia, language delay, developmental delay, light skin color, low eyebrows, anteverted nostrils, longphiltrum, thick lower lip q21.13 q21.3 RP11-3L2/RP11-258G9 RP1-133P16/R P11-122C13 18651096   3.7Mb deletion of paternal origin detected by FISH; SGCE and PEG10 among 25 genes deleted Edit
167 1895319_D3_3 46, XY, ins(7)(p15.1q11.21q11.23) del(7)(q21.2q22.1) de novo bilateral split hand/split foot, malformed ears, hyperterolism, mildly delayed speech, full-scale IQ of 84 q21.2 q22.1 COL1A2/ PON1 D7S651/ D7S662 1895319, 8023840, 7987313, 7616545, 8782053, 15692208, 15732063 D3 [8023840, 7987313], ref. 10 [8782053]   Edit
168 Milunsky_A841 46, XY, del(7)(q21.2q22) ocular hypertelorism, a beaked nose, low set ears, bilateral simian creases and a ventricular septal defect q21.2 q22       Milunsky et al, abstract #A841 Edit
169 9880208 46, XY, der(6)ins(6;7)(q16.2;q21.2q22.1) pat? moderate mental retardation, multiple congenital anomalies, macrocephaly, hypertelorism, syndactyly q21.2 q22.1     9880208, 11531975, 12407716, 12818530 BC trisomy 7q21.2-7q22.1; two normal brothers had balanced ins(6;7) Edit
170 11113903_1 46, XY, der(13)t(7;13)(q21.2;p12) mat bilateral ventriculomegaly, scaphocephaly, hypertelorism, horizontal palpebral fissures, flat nasal bridge, low-set ears, microretrognathism, clinodactyly of 5th finger with only two phalanges, simian creases on the left hand, bilateral club feet with syndactyly of 2nd and 3rd toes, only11 rib pairs q21.2       11113903 fetus in the 4th pregnancy (first case) trisomy of 7q21.3-qter; mother had balanced t(7;13) Edit
171 MCN_20010002-041 46, XY, t(7;16)(q21.2;q13) speech defect, behaviour disorder/hyperactivity/p sychosis q21.2       MCN ID:20010002-041 www.mcndb.org Edit
172 DGAP_139 46, XY, t(7;13)(p15.3;q14.1) developmental delay, hypotonia, dolichocephaly, frontal upsweep, synophrys, long, straight eyelashes, small nares, pronounced philtral creases, small mouth, flat hemangiomas on back of neck, some pectus excavatum (may be paternally inherited), joint hyperextensibility, feet have increased secondary creases on both soles, hands demonstrate a left palmar crease and a right Sydney line q21.2       139 http://www.bwhpathology.org/d gap/ Edit
173 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
174 2301476 46, XY, del(7)(q21.3q31.3) de novo developmental delay, microcephaly, widely patent sutures and fontanels, hypertelorism, low-set malformed ears, broad philtrum, wide mouth, micrognathia, ectrodactyly of the right hand, absence of lower limbs, congenital hearing loss, corpus callosum agenesis, ASD, cloudy corneas q21.3 q31.3     2301476, 15692208, 7616545, 11045577, 8782053 ref. A (our case) [2301476], ref. 8 [8782053] first reported in Higgins et al., 1987, Am J Hum Genet 41:122A Edit
175 10602362_2 46, XY, t(7;21)(q21.3;q21.3) pat hypertelorism, prominent upper lip q21.3       10602362 patient 2 second son of 10602362_4 Edit
176 19449426_2 46,XX,t(7;15)(q21;q15),t (9;14)(q21q11.2)dn.arr 7q21.3(96,215,406-97,593,2 99)x1,(15q21.1q21.2)x1 bilateral split-foot malformation, micrognathia, full lower lip, strabismus, stenosis of bilateral ear canals, severe mixed type deafness, developmental delays, self-injurious, hyperactive, sleep disorders q21.3 q21.3   LMTK2 19449426 F10 ~806 kb deletion; discussion of LMTK2 as candidate gene Edit
177 19647853_5_2 4?,XX.arr 7p15.2(1-25,996,000)x3,7 q21.3q31.31(93,033,000-119,835,0 00)x3,7q11.21q11.23(61,960,0 00-74,706,000)x1,7 q31.31q33(119,981,000-136,810,0 00)x1 Splenic marginal zone B-cell lymphoma, hepatitis C virus infection, progressivechemotherapy-refractory disease, hyperleukocytosisand aggressive disease q21.3 q31.31     19647853 UPN 5 NCBI build 35 Edit
178 10190335_2 46, XY, t(7;12)(q21.4;q15) de novo autism, mental retardation, seizures, hyperactivity; speech defect; hearing abnormal; abnormal ears, deep set eyes, abnormal dentition q21.4       10190335 case 2 [10190335] , MCN ID:19800002-001 www.mcndb.org Edit
179 8611479_2 46, XY, del(7)(q22q32) hypereosinophilic syndrome q22 q32 EPO / ACHE MET$ / TCRB 8611479 2   Edit
180 12547165 46, XX, t(1;7)(q42;q22) myelocytic and megakaryocytic hyperplasia q22       12547165   son has same translocation Edit
181 3409538_3 46, XX, der(1)t(1;7)(q44;q22) mat severe psychomotor retardation, hypotonia (upper arms) macrocephaly, hypertelorism, microretrognathia, kyphoscoliosis, skeletal anomalies, hip dislocation, many dysmorphic features, died at 7 months of age q22       3409538, 11536263 case 3 (Rome) trisomy of 7q22-qter; mother had balanced t(1;7) Edit
182 1080040 46, XY, der(13)ins(13;7)(q31;q22q31) pat dysmorphic features, dilatation of lateral ventricles with subcortical atrophy, hyperextensibility q22 q31     1080040, 1084120, 7390476 case 4 [7390476] trisomy of 7q22-q31 Edit
183 1453440 46, XX, inv dup(7)(q22q36.1) de novo hypertelorism, macrocephaly, downward slanting palpebral fissures, anteverted nares q22 q36.1     1453440, 11113903, 11531975, 12407716, 12818530     Edit
184 9415687_proband_1 46, XY, rec(7)dup(7q)inv(7)(p22q22) pat chrondrodysplasia punctata, ocular hypertelorism, atrial septal defect, scoliosis, microretrognathia, low and malformed ears, inguinal hernia q22 qter     9415687, 11113903, 11536263 proband monosomy of 7p22-pter & trisomy of 7q22-qter Edit
185 12407716_1 47, XX, +der(15)t(7;15)(q22;q11.2). ish der(15)t(7;15)(WCP7+)(SNRPN-) mat cleft palate with retrognathia, cardiomyopathy, pulmonary hypertension q22       12407716 patient 1 trisomy of 7q22-qter; mother had balanced t(7;15) Edit
186 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
187 MCN_19890002-061 46, XX, t(2;7)(q31;q22) pat spasticity/rigidity/hypertonia/b risk reflexes q22       MCN ID:19890002-061 www.mcndb.org Edit
188 MCN_19970126-224 46, XY, t(5;7)(p13;q22) mental retardation, hypertelorism, microcephaly, short palpebral fissures/blepharophimosis q22       MCN ID:19970126-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
189 MCN_19890003-035 46,XX,t(7;13)(q22;q21.3) de novo asymmetry of lower limbs/hemihypertrophy, asymmetry of the body/hemihypertrophy/h emiatrophy q22       MCN ID: 19890003-035 www.mcndb.org Edit
190 MCN_19990002-210 46, XY, t(7;16)(q22;q24) behaviour disorder/hyperactivity/p sychosis q22       MCN ID:19990002-210 www.mcndb.org Edit
191 4438062_proposant 46, XY, t(5;7;17)(q31;q22q31;p13) [inferred: der(5)(5pter-> 5q31:), der(17)(17qter->17p13::7q22-> 7q31 or 7q31-> 7q22::5q31-> 5qter)] hypotonia, psychomotor retardation, frontal and parietal bossing, hypertelorism, epicanthus, convergent strabismus, gross tongue, prognathism, strabismus q22 q31     4438062, 7390476 proposant, G.F. [4438062], case 6 [7390476] trisomy of 7q22-q31 Edit
192 5304617_child 46, XY, der(12)t(7;12)(q22;q24.3) mat prominent occiput, hypertelorism, retrognathia, cleft palate, narrow slits palpebrales, atonia q22       5304617, 4539489, 4438062, 1084120, 738728, 7390476, 11536263 child (IV-8) [4539489], 3179 [738728], case 3 [7390476] trisomy of 7q22-qter; mother (4539489_mother) and maternal grandmother had balanced t(7;12) Edit
193 van Maldergem_ESHG1991 46, XY, del(7)(q22) microcephaly, hirsutism, small triangular face, short palpebral upward oriented fissures, short nose with anteverted nostrils, hypertrophic arches of the mandible, hypoplastic receding chin, long philtrum, small month, medial cleft/palate, balanic hypospadias with bilateral cryptorchidism, symptomatic cardiac malformation (aortic coarctation), urethral stenosis, died on day 2 q22 qter     8135290   reported by van Maldergen et al. at Eur Soc Hum Genet, 1991, Leuven, I.264 Edit
194 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
195 Brodie_2005 46, XX, del(7)(q22.2q31) de novo developmental delay, speech-language disorder, growth delay, microcephaly, hypertelorism, down-slanting narrow palpebral fissures, flat nasal bridge, cardiac malformation (patent foramen ovale, ductus arteriosus, peripheral pulmonic stenosis), hypotonia, severe bilateral arachnodactyly and clinodactyly of II, IV, V q22.2 q31       reported at Annual Clinical Genetics Meeting, 2005 (#137) Edit
196 MCN_19970149-224 46, XX, del(7)(q22.3q32) long/large ear, mental retardation, hypertelorism, microcephaly, up-slanting palpebral fissures, low set ears, high vaulted and narrow palate q22.3 q32     MCN ID:19970149-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
197 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
198 1248183 46, XY, der(5)t(5;7)(q35;q31) pat died 20hrs after birth, abnormal head shape, hypertelorism, malformed and low-set ears, flattened nasal bridge, cleft palate, micrognathia, short sternum q31       1248183 propositus, III-5 trisomy of 7q31-qter; father, paternal grandmother and aunt, and a cousin carry balanced t(5;7) Edit
199 MCN_19960005-047 46, XX, t(5;7)(q12;q31) de novo mental retardation, EEG abnormality, behaviour disorder/hyperactivity/p sychosis q31       MCN ID: 19960005-047 www.mcndb.org Edit
200 4544093_proband 46, XX, der(21)t(7;21)(q31;p13) mat hypertelorism, coloboma of the iris, fissured palate, microretrognathia, transverse palmar crease on both hands, fuzzy hair, aplasia of 12th rib q31       4544093, 4438062, 1084120, 7390476, 11531975 proband (III-1, C 4087) [4544093], case 7 [7390476] trisomy of 7q31-qter; daughter of 4544093_mother Edit
201 4539763_mother 46, XX, inv? ins(7;3)(q31;p21p26) hypertelorism, macrostomia, congenital heart disease q31       4539763 mother (II-4) mother of 4539763_sons Edit
202 4539763_sons 46, XY, der(7)ins(7;3)(q31;p21p26) mat square-shaped facies, hypertelorism, macrostomia, high frequency of whorls on the fingers; one had congenital heart disease, and mesenterium commune, died at 4 months of age; one had congenital heart disease, esophageal atresia, cleft palate, died at 2 days; the other child (III-8) had mental retardation, certain features remniscent of testicular feminisation syndrome q31       4539763 three sons (III-7, -8, -9) three sons of 4539763_mother Edit
203 14679581_3_3 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32-> 7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q31.1   RP11-10D8/ RP11-91F7   14679581, 16470734 patient 3   Edit
204 MCN_19990002-281 46, XY, t(7;13)(q31.2;q21.3) de novo mental retardation, epicanthic folds, speech defect, behaviour disorder/hyperactivity/p sychosis q31.2       MCN ID: 19990002-281 www.mcndb.org Edit
205 MCN_19950001-064 46, XX, t(1;7)(p13.3;q31.3) de novo mental retardation, Behaviour disorder/hyperactivity/p sychosis, seizures q31.3       MCN ID: 19950001-064 could be the same patient as 15870826; www.mcndb.org Edit
206 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
207 Spaetgens_ASHG2005 46, XX, del(7)(q31.3q32) de novo expressive language delay, congenital hypothyroidism, congenital heart defect (ASD), bilateral sensorineural hearing loss, hypotonia, mild dysmorphism, hyperactivity & aggressiveness q31.3 q32       Spaetgens et al., ASHG 2005, Program #825 Edit
208 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
209 19647853_5_4 4?,XX.arr 7p15.2(1-25,996,000)x3,7 q21.3q31.31(93,033,000-119,835,0 00)x3,7q11.21q11.23(61,960,0 00-74,706,000)x1,7 q31.31q33(119,981,000-136,810,0 00)x1 Splenic marginal zone B-cell lymphoma, hepatitis C virus infection, progressivechemotherapy-refractory disease, hyperleukocytosisand aggressive disease q31.31 q33     19647853 UPN 5 NCBI build 35 Edit
210 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
211 631854 46, XX, del(7)(q32) de novo, t(8;9)(q12;q33) pat growth and developmental delay, microcephaly, bulbous nose, prominent lips and philtrum, esotropia, latent hypermetropia, spasticity q32 qter     631854, 6758992, 8135290 proposita [631854], case 21 [6758992] father, grandfather and sister had same translocations Edit
212 912940_1 46, XX, del(7)(q32) de novo developmental delay, prominent forehead, brachycephaly, prominent and cupped ears with somewhat simple helices, bifid uvula, prominent labia, anal skin tags, hyperextensible joints, aplasia of the sacrum q32 qter     912940, 631854, 537019, 6758992, 3055986, 8135290 case 1 (L.H.) [912940], case 8 [537019], case 17 [6758992] previously reported in Harris et al., 1976, Birth Defects Conference, National Foundation/M arch of Dimes, p. 233, and Harris et al, 1977, Birth Defects: Original Article Series 13(3B):244 Edit
213 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
214 7206305_2 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 q32 qter     7206305, 6758992, 3354600, 8135290 case 23 [6758992]   Edit
215 2333907_5 46, XX, del(7)(q32) de novo hydrocephalus, probably hydronephrosis, growth retardation, holoprosencephaly, cebocephaly, hypertelorism, single nostril, dilated colon q32 qter     2333907, 8135290 patient 5   Edit
216 6928813_FV 46, XX, del(7)(q32) de novo moderately mentally retarded, very marked hypertelorism, speckled irides, upward-slanting palpebral fissures, prominent forehead, large low-set ears, bulbous nasal tip, large mouth q32 qter     6928813, 6758992, 8135290 FV [6928813], case 25 [6758992]   Edit
217 7334693 46, XY, del(7)(q32) heart defect (PDA, pulmonary hypertension), hypotonic, microcephaly, micrognathia, high arched palate, sacral dimple, bilateral cryptorchidism, hypospadia with small penis q32 qter     7334693, 6758992, 3354600, 8135290 case 26 [6758992]   Edit
218 535897 46, XY, der(5)t(5;7)(p15;q32) mat severe neurological dysfunction, cat-like cry, defective ossification of the calvarian bones, hypertelorism, congenital heart defect, internal hydrocephalus, bilateral hydronephrosis q32       535897 propositus (III-4) trisomy of 7q32-qter; mother (II-4) and brother (III-5) had balanced t(5;7) Edit
219 3783625_1 46, XX, der(12)t(7;12)(q32;p13) pat enlarged heart, retarded development, krphoscoliosis, hypermobility, hypotonic palsy, severely retarded, no speech q32       3783625 case 1 trisomy of 7q32-qter; father and two brothers had balanced t(7;12) Edit
220 6928813_MG 46, XY, der(7)t(6;7)(p25;q32) mat, 9qh+ pat cleft lip/palate, severe mental and physical retardation, hypotonic, mircocephaly with small but prominent forehead, hypertelorism, upward-slanting palpebral fissures, large low-set ears, anteverted nares, micrognathia, very small penis q32       6928813, 6758992, 8135290 MG [6928813], case 24 [6758992] monosomy of 7q32-qter; mother had balanced t(6;7) Edit
221 7166316 46, XX, der(3)t(3;7)(p27;q32) pat psychomotor retardation, neurological illness with craniofacial dysmorphia, hypertelorism, hypotonia, kryphoscoliosis q32       7166316 proband trisomy of 7q32-qter; father had balanced t(3;7) Edit
222 9109934 4?, XY, t(4;7)(q11;q32) chronic myeloid leukemia associated with hypereosinophilic syndrome q32       9109934     Edit
223 1085602_KS 46, XY, t(4;7)(q35;q32) pat seizures, brachycephaly, hypertonic, feeding difficulties, psychomotor delay q32       1085602 KS (Proposant 2, V-1) father had same translocation; related to 1085602_TS Edit
224 3981581_V-4 46, XY, der(1)t(1;7)(q43;q32) pat cleft palate, dysmorphic features, hypertelorism, micrognathia, developmental delay q32       3981581, 15517824 V-4, proband trisomy of 7q32-qter; daughter of 3981581_IV-9, niece of 3981581_IV-7 Edit
225 10766986_propositus 46, XY, der(14)ins(14;7)(q13;q32q34) mat mental and developmental retardation, seizures disorder, macrocephaly, generalized muscular hypertonia, kyphoscoliosis, minor anomalies, prominent midface, rigid gait q32 q34     10766986 propositus trisomy of 7q32-q34; brother of 10766986_brother Edit
226 MCN_19890001-135 46, XY, t(2;7)(q21;q32) spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, hypotonia q32       MCN ID: 19890001-135 www.mcndb.org Edit
227 5635067 46, XY, t(6;7)(p21;q32)del(7)(q32) de novo low birth weight, narrow cranium with slightly protruding frontal eminences, deeply depressed nasal bridge, protruding eyes with hypertrophied eyelids and epicanthic folds, bulbous nose, receding chin, low-set ears, preauricular tubercle, umbilical hernia, bilateral inguinal hernia, bilateral acromial dimples, psychomotor retardation, feeding difficulties q32 qter     5635067, 4140832, 631854, 537019, 6758992, 8135290 case 1 [4140832], case 7 [537019], case 15 [6758992]   Edit
228 537020_proband 46, XX, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, hypertelorism, flat nasal bridge with broad bulbous tip, low-set ears, wide mouth q32 q34     537020, 6758992, 3265313, 16222668 proband (III-11) [537020], case 27 [6758992] monosomy of 7q32-q34; two maternal cousins had same karyotype Edit
229 537020_cousin _III-8 46, XX, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, speech delay, hypertelorism, flat nasal bridge with broad bulbous tip, low-set ears, wide mouth, bilateral optic atrophy and hypermetropia, seizures q32 q34     537020, 6758992, 3265313, 16222668 maternal first cousin of proband (III-8) [537020], case 28 [6758992] monosomy of 7q32-q34; brother (537020_cousin _III-10), maternal first cousin (537020_proband) had same karyotype Edit
230 537020_cousin _III-10 46, XY, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, speech delay, hypertelorism, bulbous nose, synophrys, wide mouth, large ears q32 q34     537020, 6758992, 3265313, 16222668 maternal first cousin of proband (III-10) [537020], case 29 [6758992] monosomy of 7q32-q34; sister (537020_cousin _III-8), maternal first cousin (537020_proband) had same karyotype Edit
231 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
232 21082657_2_1 46,XY,ins(7;13)(q32q34;q32).arr 7q32q34(141,630,000–153,870,0 00)x1 delayed psychomotor development, language delay, epilepsy, severe mental retardation, aggressive behaviour, autistic behaviour, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth and thickvermilion, slightlyprominent bilateral deep-tendon reflexes, slightly spastic lowerextremities, tiptoe walks q32 q34     21082657   insertion found in 3 generation family; ~12.2 Mb deletion; NCBI36 Edit
233 18056692_2 46,XY, der(5)t(5;7)(q35;?),i sh der (5)t(5;7)(q35;q32)(wcp5+,wcp7+,T EL5Q+, TEL7Q+) ventriculomegaly, low birth weight, congenital heart defects, genital-urinary defects, cerebral anomalies, strabismus, failure to thrive, severe developmental delay, hypotonia, macrocepahly, frontal bossing, hypertelorism, narrow & down-slanting palpebral fissures, small nose, depressed nasal bridge, microretrognathia, malformed & low-set ears, short neck q32 qter     18056692   older sister has ventricular septal defect Edit
234 18056692_1 46,XY, der(5)t(5;7)(q35;?),i sh der (5)t(5;7)(q35;q32)(wcp5+,wcp7+,T EL5Q+, TEL7Q+) ventriculomegaly, low birth weight, congenital heart defects, genital-urinary defects, cerebral anomalies, strabismus, failure to thrive, severe developmental delay, hypotonia, macrocepahly, frontal bossing, hypertelorism, narrow & down-slanting palpebral fissures, small nose, depressed nasal bridge, microretrognathia, malformed & low-set ears, short neck q32       18056692   older sister has ventricular septal defect Edit
235 MCN_19950001-002_1 46, XY, ins(7)(q32.1q34.1q35) mental retardation, microcephaly, speech defect, generalised obesity, hyperphagia q32.1       MCN ID: 19950001-002 www.mcndb.org Edit
236 19582487_1 46,XYqs pat, dup(1)(pter->p32.3::p32.3->p32.3::p32.3->qter)mat, der(1)(1pter->1q31.2::7q35->7q35::7q35->7q35::1q31.2->1q41.1::1q41.1->1qter),d er(7)(7pter->7q32.1::7q35->7q32.1::7q35->7qter)de novo ASD, speechdelay, violent outbursts, hyperactive, positional talipes at birth, mild hypospadia, mild truncalataxia, hypermobile joints, small facial features, micrognathia, ptosis, 2/3 toe syndactyly q32.1 q35 RP11-791P8 RP11-374N8 /RP11-49G5 19582487     Edit
237 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
238 Phalen_ASHG2003_propositus 46, XY, dup(7)(q32.3q34) mat global developmental delay, positional occipital plagiocephaly, prominent mid-face with micrognathia, slightly low-set ears, hypoplastic nose, long philtrum, high-arched palate, single palmar crease, truncal hypotonia with peripheral hypertonia q32.3 q34     propositus son of Phalen_ASHG2003_mother; Phalen et al., ASHG 2003, Program #644 Edit
239 11558148 46, XX, der(20)t(7;20)(q32.3;q13.33) de novo West syndrome [diagnosed on EEG], hypertelorism, bifid uvula, long philtrum, dysplastic ears q32.3       11558148   trisomy of 7q32.3-qter Edit
240 19328872_3 46,XY,t(7;17)(q32.3;q25.1).arr (15q11.2)x1 mat IUGR, developmental delay, recurrent upper airway infections, neonatal feeding problems, convergent strabismus, motor dyspraxia, plagiocephaly, broad forehead, hypertelorism, dysmorphic ears, pectus excavatum, slender fingers, OCD q32.3       19328872 case 3 paternal sibling died of spina bifida, maternal aunt had epilepsy, maternal uncle had delayed motor milestones Edit
241 2333907_1 46, XY, del(7)(q33) de novo cleft lip, cleft palate, glandular hypospadias, bilateral perauricular tags, conductive hearing loss, hyperextensible q33 qter     2333907, 8135290 patient 1   Edit
242 8485580_336 46, XY, del(7)(q32) mild holoprosencephaly, microcephaly, mental retardation, hypoplasia of the corpus callosum, optic atrophy, hypertelorism, cleft palate q33 qter BV006764/ D7S512   8485580, 10924407 336 [8485580], FB336R [10924407], GM7412 (GM07412) GM07412: fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
243 2248294_2 46, XY, der(14)t(7;14)(q33;p12) mat epicanthic fold, downslanting eyes, depressed nasal bridge, small nose, microretrognathia, hypertelorism, renal microcysts, skeletal anomalies, single palmer crease, short neck, hip dislocation q33 qter     2248294, 11531975 patient 2 trisomy of 7q33-qter; spontaneously aborted fetus at 17 weeks; mother had balanced t(7;14); sibling of 2248294_1 Edit
244 16222668_proband 46, XY, der(7)ins(6;7)(p25;q33q34) mat matsevere mental retardation, psychomotor development, very little speech, sensorineural hearing deficit, strabismus, diplopia, hypertelorism, depressed nasal bridge, epicanthal folds, low set ears, micrognathia, marked philtrum, short & broad hands q33 q34 RP11-344L16 RP11-250J16/ RP11-707F14 16222668 proband (IV-6) monosomy of 7q33-q34; severely affected maternal uncle (III-1) and aunt (III-3) had same der(7) Edit
245 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
246 23201896_1 46,XY,der(13)t(7;13)(q33;q33)mat.arr 7q33-q36.3(136,570,553-158,291,4 40)×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion, hypertonia, undescended testes with hypoplasticscrotum, chordee, hydronephrosis, skeletal malformation but no thumb a-/hypoplasia or microphtalmia q33       23201896   history of neurodevelopment retardation in the father's family Edit
247 23201896_2 46,XY,der(13)t(7;13)(q33;q33)mat.arr 7q33-q36.3(136,570,553-158,291,4 40)×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion, hypertonia, undescended testes with hypoplasticscrotum, chordee, hydronephrosis, skeletal malformation but no thumb a-/hypoplasia or microphtalmia q33 q36.3     23201896   ~22 Mb duplication; history of neurodevelopment retardation in the father's family Edit
248 23201896_3 46,XY,der(13)t(7;13)(q33;q33)mat.arr 7q33-q36.3(136,570,553-158,291,4 40)×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion, hypertonia, undescended testes with hypoplasticscrotum, chordee, hydronephrosis, skeletal malformation but no thumb a-/hypoplasia or microphtalmia q33.3 q34     23201896   history of neurodevelopment retardation in the father's family Edit
249 3354600 46, XY, del(7)(q34) de novo hypertelorism, bilateral cleft lip/palate, cryptorchidism, complex congenital heart defect q34 qter     3354600, 8135290 JP   Edit
250 2319577_3 46, XX, -17, +rec(17), dup(7)(q34->qter), dir ins (7;17)(q34;q23.1q25.3) mat hypotonia, hypertelorism, strabismus of the left eye, severely mentally retarded, dysmorphic features q34       2319577, 10951456, 11531925, 12407716 case 3 (IV-30) trisomy of 7q34-qter; cousin of 2319577_2; mother (III-24) and grandmother (II-7) had ins(7;17)(q3;q23.1q25.3) Edit
251 Krger_ESHG2004_1 46, XX, del(7)(q34q36) suspected of cri-du-chat-syndrome at birth, deep infraorbital creases, small nose with anteverted nares, long philtrum, retro-/micrognathia, high palate, short neck, muscular hypertonia q34 q36     case 1 Krger et al., ESHG 2004, P0041 Edit
252 6430085_2 46, XX, der(7)t(1;7)(q32;q34) mat brain malformation, holoprosencphaly, cebocephaly, hypertelorism, single nostril, hydroureters, died two hours after birth q34   D7S61$/ EN2$   6430085, 8485580, 8326499 patient 2 (V-25) [6430085], 207 [8485580] monosomy of 7q34-qter; related to 6430085_1 Edit
253 16470702 46, XX, del(7)(q34q36.2) [detected by HR-CGH] long QT syndrome type 2, pre- & postnatal growth retardation, feeding problems, psychomotor developmental delay, severe attention deficits, motor hyperactivity disorder, seizures, microcephaly, hypermetropia, sensorineural hearing impairment, dysmorphic features, incisor malocclusion, (only twin B) coloboma q34 q36.2     16470702 Twins A & B KCNH2 deleted; deletion size, 12.2 - 12.4 Mb Edit
254 7529320 46, XX, del(7)(q34q36) de novo mental retardation, developmental delay, speech delay, convergent squint, hypermetropia, low-set ears, micrognathia, high palate, bulbous nasal tip, posteriorly rotated ears q34 q36     7529320 proband   Edit
255 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
256 21082657_2 46,XY,ins(7;13)(q32q34;q32).arr 7q34q36.2(141,630,000–153,8 70,000)x1 delayed psychomotor development, language delay, epilepsy, severe mental retardation, aggressive behaviour, autistic behaviour, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth and thickvermilion, slightlyprominent bilateral deep-tendon reflexes, slightly spastic lowerextremities, tiptoe walks q34 q36.2     21082657   ~12.2 Mb deletion; NCBI36 Edit
257 MCN_19950001-002_2 46, XY, ins(7)(q32.1q34.1q35) mental retardation, microcephaly, speech defect, generalised obesity, hyperphagia q34.1 q35     MCN ID: 19950001-002 www.mcndb.org Edit
258 6199974_2 46, XX, del(7)(q35) de novo microcephaly, developmental delay, upslanting palpebral fissures with a depressed nasal bridge, mild micrognathia, small anterior fontanel, capillary hemangioma of the nose, small nose, long upper lip with prominent longitudinal ridges of the philtrum, lateral palatine ridges, hyperextensible fingers, clinodactyly of the 4th toes q35 qter     6199974, 8135290 patient 2   Edit
259 12749033 46, XX, del(7)(q35) de novo microcephaly, tetralogy of Fallot, IUGR, prominent forehead, hypertelorism, epicanthus, upslanting palpebral fissures, a flat and broad nasal bridges, micrognathia, large low-set ears, overriding toes, normal brain and spine q35 qter D7S2450/ D7S661   12749033   amniotic fluid cells Edit
260 738728_7246 46, XY, t(1;7)(q42;q22), t(5;9)(q31;q32), t(13;16)(q21;q22) de novo gingival hyperplasia q35       738728 7246   Edit
261 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
262 7617582 46, XX, der(7)t(2;7)(q24.1;q35) mat intrauterine growth retardation, dilatation of the lateral cerebral ventricles, corpus callosum agenesis, lack of the olfactory bulbs, flattened face with prominent front, hypoplastic nose with anteverted nostrils, wide & prominent nasal root, narrow upward slanting palpebral fissures, mild hypertelorism, low-set & posteriorly rotated ears, elongated philtrum, month with down-turned corners * thin upper lip, retrognathia, short neck, widely spaced nipples; aborted at 22 weeks q35       7617582 fetus monosomy of 7q35-qter; unaffected mother and two sisters had balanced t(2;7) Edit
263 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
264 19582487_2 46,XYqs pat, dup(1)(pter->p32.3::p32.3->p32.3::p32.3->qter)mat, der(1)(1pter->1q31.2::7q35->7q35::7q35->7q35::1q31.2->1q41.1::1q41.1->1qter),d er(7)(7pter->7q32.1::7q35->7q32.1::7q35->7qter)de novo ASD, speechdelay, violent outbursts, hyperactive, positional talipes at birth, mild hypospadia, mild truncalataxia, hypermobile joints, small facial features, micrognathia, ptosis, 2/3 toe syndactyly q35 q35 RP11-49G5 RP11-697B15 / RP4-630F1 19582487   CNTNAP2 gene disrupted Edit
265 19582487_3 46,XYqs pat, dup(1)(pter->p32.3::p32.3->p32.3::p32.3->qter)mat, der(1)(1pter->1q31.2::7q35->7q35::7q35->7q35::1q31.2->1q41.1::1q41.1->1qter),d er(7)(7pter->7q32.1::7q35->7q32.1::7q35->7qter)de novo ASD, speechdelay, violent outbursts, hyperactive, positional talipes at birth, mild hypospadia, mild truncalataxia, hypermobile joints, small facial features, micrognathia, ptosis, 2/3 toe syndactyly q35 q35 RP5-969D4 /RP11-643A21 RP4-777G9 19582487   CNTNAP2 gene disrupted Edit
266 19582487_4 46,XYqs pat, dup(1)(pter->p32.3::p32.3->p32.3::p32.3->qter)mat, der(1)(1pter->1q31.2::7q35->7q35::7q35->7q35::1q31.2->1q41.1::1q41.1->1qter),d er(7)(7pter->7q32.1::7q35->7q32.1::7q35->7qter)de novo ASD, speechdelay, violent outbursts, hyperactive, positional talipes at birth, mild hypospadia, mild truncalataxia, hypermobile joints, small facial features, micrognathia, ptosis, 2/3 toe syndactyly q35 q35 rs17170068/r s10275851 rs12674168/r s11972861 19582487   de novo hemizygous loss of min. 402 kb - max. 435 kb in the CNTNAP2 gene Edit
267 19896112_P2 4?,XX.arr 7q35q36.1(146,387,354-146,566,8 63)x1 autistic behaviour, mild motor delay, severe mental retardation, no speech, seizures, developmental regression, hyperbreathing, tooth grinding, rep.hand movements, dry skin q35 q36.1 CNTNAP2   19896112 P2 ~180 kb heterozygous deletion, hg18 assembly Edit
268 19738385 46,XX,trp(7)(q35q36).arr7q35q36(145,2 81,329–158,811,2 68)x4 low-set ears, dolichocephaly, narrow skull, thickened/oedematous eyelids, wide downslanting palpebral fissures, hypertelorism, low-set posteriorly rotated external ears with a flattened appearance, broad nasal bridge, high-arched palate, thin upper lip, cutis marmorata of the head, left-ventricular hypertrophy, enlarged adrenal glands, deformity of the feet, hypoplasia of corpus callosum q35 q36     19738385   ~13.5 Mb triplication Edit
269 24341145 45,X.arr X(154,577,253-154,913,754)x1,7 q35qter(142,706,753-158,821,4 24)x1 testicular disorder of sex development, respiratory distress, hypertension, microcephaly, cleft lip and palate, low-set ears with large earlobes, anal stenosis, accessory nipple, retinal coloboma, optic disc hypoplasia, renal agenesis, thickened bladder, urethral stenosis q35 qter     24341145 male patient ~16 Mb deletion; rearrangement of SRY gene on chromosome 7 Edit
270 2624261_I-2 46, XX, t(7;9)(q36;q34). ish t(7;9)(D7Z1+, D7S427-, ABL+ ; D9Z1+, ABL-, D7S427+) mild holoprosencephaly, small head, large nose with bulbous tip, telecanthus & downward slant to the eyes, developmental delay, ocular hypertelorism, ear malformations, single central incisor, children with HPE children with HPE q36   LL07NC01-96-well-199b9/ LL07NC01-96-well-190c1   2624261, 1897576, 8896571, 9254845 patient I-2 [2624261], 104, T1 [8896571, 9254845], GM13689 (family 1637, mother) mother of 2624261_II-1, II-2, II-5, II-8; GM13689: lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository Edit
271 10416976 46, XX, der(7)t(2;7)(q37;q36) pat hypotonic, microcephalic, hypertelorism, developmental delay, probable hearing loss, no useful vision q36       10416976 III-15 monosomy of 7q36-qter; father had balanaced t(2;7) Edit
272 DGAP036 46, XY, t(7;9)(q36;q34) mat microcephaly, hypertelorism, down-slanting palpebral fissures, dysmorphic nose, large ears, unspecified midline defects segregating in (familial) carriers of the translocation q36   AC091389   DGAP036 AC091389 (this is a working draft sequence) was split on FISH study; http://www.bwhpathology.org/d gap/ Edit
273 12205123_3 46, XY, t(7;10)(q36;q26) pat profound psychomotor retardation, generalised hypotonia, microcephaly, hypospadias, bilateral cryptorchidism, 2/3 partial cutaneous syndactyly, abnormal sacrum, scoliosis, hypertelorism, asymmetrical palpebral fissures, micrognathia, dysplastic ears, flat occiput, high arched palate, died at 16 years of age q36       12205123, 15039644 case 3 (IV-10) [12205123], family 1 [15039644] breakpoint at 7q36 is located at 11.4 - 11.6 Mb from 7qter [by FISH]; normal father had same translocation and three children with MR; many individuals in the father Edit
274 10568569 46, XX, der(7)t(2;7)(q37;q36) pat severe mental retardation, microcephaly, hypotonia, hypertelorism, upslanting palpebral fissures, left microphthalmos, right anopthalmos q36       10568569 index case (2.1) in the 10th family in Figure 1 monosomy of 7q36-qter; unaffected father (1.2) had balanced t(2;7) Edit
275 11494289_proband 46, XY. ish der(16)t(7;16)(q36;p13.3) mat speech delay, motor retardation, hypertelorism, broad forehead, broad and flat nose q36       11494289 proband (elder son), first child trisomy of q36-qter Edit
276 11494289_fetus 46, XY, inv(16). ish der(16)t(7;16)(q36;p13.3)inv(16)(p11.2q23.2) mat macrocephaly, delay closure of the fontanel, motor retardation, hypertelorism, broad forehead, broad and flat nose q36       11494289 fetus, second child trisomy of q36-qter Edit
277 MCN_19810003-311 46, XX, t(1;7)(p22;q36) mat, inv(9) mental retardation, hydrocephalus/d ilated cerebral ventricles, hypertelorism, any vertebral defect q36       MCN ID: 19810003-311 www.mcndb.org Edit
278 MCN_19770002-008 46, XY, t(1;7)(p34;q36) mental retardation, behaviour disorder/hyperactivity/p sychosis q36       MCN ID: 19770002-008 www.mcndb.org Edit
279 6478645 46, XY, der(7)t(7;14)(q36;q24) mat growth retardation, developmental retardation, low birth weight, failure to thrive, feeble cry, hypertelorism, abnormal shape of the skull, Mongolian slant of the palpebral fissures, coloboma of choroidea and papilla in the left eye, prominent nose, narrow palate, micrognathia, low-set posteriorly-rotated ears q36       6478645, 8135290   monosomy of 7q36-qter; healthy mother had balanced t(7;14) Edit
280 6604490_2 46, XX, der(7)t(7;10)(q36;q25) de novo cleft palate and urogenital sinus, growth retardation, developmental retardation, severe psychomotor delay, neurogenic bladder, repeated urinary tract infection, speech delay, dysmorphic features, hypertelorism q36       6604490, 8135290 patient 2 (C.C) monosomy of 7q36-qter Edit
281 6418421_IV-2 46, XY, der(7)t(4;7)(p12;q36) mat? growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, seizures, hyperactivity and aggressive behaviour, hypospadias q36       6418421, 8135290 patient IV-2 monosomy of 7q36-qter; brother of 6418241_IV-3, second cousin of 6418241_IV-4 and 6418241_IV-1; mother was considered to have balanced t(4;7) by pedigree Edit
282 6418421_IV-3 46, XY, der(7)t(4;7)(p12;q36) mat? growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, seizures, hyperactivity q36       6418421, 8135290 patient IV-3 monosomy of 7q36-qter; brother of 6418241_IV-2, second cousin of 6418241_IV-4 and 6418241_IV-1; mother was considered to have balanced t(4;7) by pedigree Edit
283 15083705 46, XX, dup(7)(q36->qter) de novo mild psychomotor retardation, language delay, relative macrocephaly, prominent frontal bossing, small nose, joint hypermobility, short 5th finger with clinodactyly, EEG anomalies q36 qter     15083705 M.G.   Edit
284 19133571 46,XX,del(7)(q36)de novo sacral dysgenesis, hypotonia, feeding problems, faiture to thrive, early developmental delay, full scale IQ of 40, down-slanting palpebral fissures, hyperkinesis, tonsillar and adenoid hypertrophy, bilateral ptosis, high arched eyebrows, depressed nasal bridge, small hands and feet, fibrolipoma of filum terminale with tethered cord, hydromyelia, arcuate uterus q36 qter     19133571     Edit
285 19215052 46,XY,der(3)t(3;7)(p25;q36 feeding difficulties, hypotonia, failure to thrive, respiratory distress, craniosynostosis, shallow orbits, hypertelorism, ptosis, sparse eyebrows. broad anteverted nose, wide nasal root, high arched palate, posteriorly rotated ears, narrow bell shaped chest, hypospadias, bilateral hip dysplasia q36       19215052 propositus paternal karyotype: 46,XY,t(3;7)(p25;q36), ~ 3.8Mb 7q gain detected by microarray, SHH duplicated Edit
286 Unpublished_30 46, XY, del(7)(q36.1q36.3) hyperactivity, developmental delay, microcephaly q36.1 q36.3     30 data unpublished Edit
287 9450876 46, XX, del(7)(q36.1) de novo microcephaly, hypertelorism, micrognathia, partial dysgenesis/h ypoplasia of the corpus callosum, mild holoprosencephaly q36.1 qter D7S676/ D7S688   9450876     Edit
288 Unpublished_EP1 46, XY, del(7)(q36.1).ish del(7)(q36.1)(wcp7+, 7qtel-) de novo megaureter, hypertelorism, hypospadias, microstomia, psychomotor retardation, Potter's facies q36.1 qter     EP1 data unpublished Edit
289 3221208_1 46, XY, der(7)t(7;11)(q36.1p11.1) pat holoprosencephaly, omphalocele, dysmorphic features (bilateral cleft lip and palate, frontal bossing, microphthalmia, hypertelorism, large nose, broad nasal bridge, broad cheeks, low-set ears, bilateral and single palmar crease, bilateral clinodactyly of the 5th fingers, overriding toes and hypospadias], persistent nephrogenesis, malrotation of the colon q36.1       3221208, 8135290, 9254845 case 1 [3221208], 665 [9254845] monosomy of 7q36.1-qter; cousin of 3221208_3 and brother of 3221208_2; father had balanced t(7;11) Edit
290 3221208_3 46, XY, der(7)t(7;11)(q36.1p11.1) pat holoprosencephaly, omphalocele, dysmorphic features (bilateral cleft lip and palate, frontal bossing, microphthalmia, hypertelorism, large nose, broad nasal bridge, broad cheeks, low-set ears, bilateral and single palmar crease, bilateral clinodactyly of the 5th fingers, overriding toes and hypospadias], persistent nephrogenesis, malrotation of the colon q36.1       3221208, 8135290, 9254845 case 3 [3221208] monosomy of 7q36.1-qter; cousin of 3221208_1 Edit
291 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
292 Pappas_ASHG2005_1 46, XX, del(7)(q36.2) [detected by FISH] microcephaly, growth retardation, GE reflux, mental retardation, hypertelorism, midface hypoplasia, malar hypoplasia, absent incisors, midline cleft palate, broad tip of the nose q36.2 qter     case 1 Pappas et al., ASHG 2005, Program #599 Edit
293 10353788_14 del(7)(q36.3) de novo [detected by microsatellite analysis] severe developmental delay, hyperextensible fingers with fingertip pads & blunting of the finger tips, prominent & bulbous nose, flat malar bones, prominent lips, large mouth with small chin; failure to thrive at 6 months of age q36.3 qter D7S2465/ D7S594   10353788 family 14 deletion arising on maternal chromosome; mother was healthy, but two of her three brothers had open spina bifida (one died at 4 months of age, and the other had surgery) and sone only sister had spina bifida occulta Edit
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