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 NIGMS_GM06097 46, XX, der(17)t(7;17)(p22.3;p13.2). ish der(17)(D17S379-, RARA+) Miller-Dieker Lissencephaly Syndrome (MDLS; 17p13.3): typical facies (bitemporal hollowing, thin downturned upper lip, micrograthia; micocephaly, high arched palate), ventricular septal defect p22.3       GM06097 trisomy of 7p22.3-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
2 12362030_2 46, XX, der(7)t(7;16)(p22.3;p13.3) pat mental retardation, cleft palate, brain anomalies, pachygyria, optic nerve hypoplasia, genitourinary abnormalities, vesicoureteral reflux, hydronephrosis, dysmorphic features, ear abnormalities, micrognathia, 2-3 toe syndactyly p22.3       12362030, 15834244 case 2 [12362030], patient 12 [15834244] monosomy of 7p22.3-pter Edit
3 3839444_1 46, XX, der(7)t(3;7)(p24.3;p22.1) mat psychomotor developmental delay, especially language delay, facial dysmorphism, asymmetric skull with a prominent right frontal boss, flattened face and broad neck, antimongoloid slant of eyes, esotropia, short nose with flattened base and small pit at the top of the philtrum, microstomia, thick lips, high arched palate, retroverted ears with excess folds, epileptic signs p22.1       3839444 case 1 monosomy of 7p22.1-pter Edit
4 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
5 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
6 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
7 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
8 8266989_mother 46, XY, t(2;7)(p23;p22) brachycephalic, a low anterior hairline, flat face, mild ptosis of the eyelids, small ears with overfolding of the upper helix of the left ear, highly arched palate, and minimal soft tissue syndactyly of the second and third fingers p22       8266989 mother   Edit
9 11746010 46, XX or XY, der(7)t(4;7)(q28;p22) mat or pat mental and developmental retardation, brachycephaly & small head, hypotonia, restricted speech, seizures, dysmorphic features, high arched palate, cryptorchidism (males only) p22       11746010 proband (IV-19), brother of proband (IV-20), cousin of proband (IV-18) monosomry of 7p22-pter; mother of IV-19 & 20 and father of IV-18 had balanced t(4;7) Edit
10 1552550 46, XX, inv(7)(p22q11.23), r(8)(p23q24.3) de novo congenital microcephaly, psychomotor developmental delay, high arched palate, prominent nose, no speech p22 q11.23     1552550     Edit
11 11992485_1 46, XX, dup(7)(?p15.3?p22) [75]/ 46, XX [15] global intellectual impairment, rebellious behaviour, psychosis, shallow supraorbital ridges, large nose, high palate p22 p15.3     11992485 patient 1 mother of 11992485_2 Edit
12 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
13 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
14 8362903 46, XY, r(7)(p22q36) [95%]/ 46, XY [5%] severe mental retardation, growth failure, microcephaly, cleft lip and palate, café-au-lait spots, nevus flammeus, genital abnormalities, traits of holoprosencephaly p22 q36     8362903, 10982483 case 10 [10982483]   Edit
15 8911601_1 46, XY, r(7)(p22q36)del(7)(q36.3q36.3)[90]/ 45, -7 [8]/ 46, XY, dup r(7) [1]/ 47, XY, r(7), +r(7) [1] hypotelorism, proptosis, single nostril, cleft lip/palate, ambiguous genitalia, semilobar holoprosencephaly p22 q36     8911601, 9254845, 10982483 859 [9254845], case 11 [10982483]   Edit
16 4025390 46, XY, der(7)t(7;16)(p22;p13) pat chondroplasia punctata, microcornea, shallow orbits, thin lips, submucous cleft palate, abnormal ears, short neck, excess skin on the abdomen, clinodactyly of II and V fingers, vertebral hypoplasia, absence of the gallbladder p22       4025390 baby boy A monosomy of 7p22-pter; father had balanced t(7;16) Edit
17 MCN_20000007-227 46, XX, der(4)t(4;7)(p16.3;p22) de novo mental retardation, cleft hard palate, shunt VSD/ASD/PDA, overlapping toes, small for gestational age (IUGR), low set ears p22       MCN ID: 20000007-227 trisomy of 7p22-pter; www.mcndb.org Edit
18 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
19 2596503 46, XX, der(7)t(7;12)(p22;q11), i(12p) [60.2%]/ 46, XX, der(7)t(7;12)(q36;q11), i(12p) [37.9%]/ 46, XX, der(11)t(11;12)(q25;q11), i(12p) [1.4%]/ 46, XX, i(12p) [0.5%] de novo psychomotor retardation, generalized hypotonia, coarse face, low-set ears, high forehead, prominent & broad cheeks, depressed nasal bridge, abnormal mouth, high-arched palate, hypoplastic tooth enamel, short neck, diastasis recti, coccygeal fovea, clinodactyly of 5th fingers, polysyndactyly of hallux, seizures p22 q36     2596503 proposita   Edit
20 7120324_1 46, XX, +22(q13->qtter) mat [46, XX, der(7)t(7;22)(p22;q13), assumed] unilateral cleft lip with cleft palate, low-set ears, microcephaly simian crease, rocker bottom feet; died 2 days after birth; truncus arteriosus with ventricular & atrial septal defects [autopsy] p22       7120324 case 1 monosomy of 7p22-pter?; aborted fetus of 7120324_mother Edit
21 3976719_1 46, XX der(7)t(7;9)(p22;p13) mat developmental & growth retardation, antimongoloid slant of palpebral fissures, asymmetric anteverted & anteflexed angulated ears, large nose, down-turned corners of mouth, high palate, camptodactyly of II & III fingers, bilateral clinodactyly of 5th fingers, umbilical hernia, various infectious diseases during early infancy p22       3976719 patient 1 (S.V.M., proposita) sister of 3976719_2; monosomy of 7p22-pter; mother (I.M.) and sister (S.C.M.) had balanced t(7;9) and ptosis Edit
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 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
25 8418642 46, XY, del(7)(p15.1p21.2) de novo multiple congential anomalies, respiratory distress, craniosynostosis, median bony protrusion on the forehead, congenital stridor, seizures, high arched palate p21.2 p15.1     8418642, 7521123, 12548740 case 18 [7521123], case 11 [12548740]   Edit
26 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
27 7909651 46, XY, t(6;7)(q16.2;p15.3) de novo craniosynostosis, mild minor anomalies, mild developmental delay, fusion of the upper central incisors, high arched palate p21.2   D7S1683/ sts-Y10871   7909651, 7868123, 9215678, 12548740 case 20 [12548740] breakpoint lies at ~5 kb downstream of TWIST deleting 518 bp in sts-Y10871; molecular cytogenetic data is not consistent with karyotype Edit
28 2363431 46, XY, dir dup(7)(p21.2p14.2) de novo moderate developmental retardation, unusual dermatoglyphics, highly arched palate, small penis p21.2 p14.2     2363431, 8839888, 9297445, 10494083, 11562935 Ref. 5 [8839888], case 6 [9297445], case 16 [10494083]   Edit
29 7987323_4-daughter 46, XX, t(2;7)(q21.1;p21.2) pat classical Saethre-Chotzen syndrome, skull asymmetry, brachycephaly (but no overt CRS), cleft palate, ususual ears, mild syndactyly of the hand, broad big toes with mid-line furrows in the nails p21.2       7987323, 7783164 daughter of case 4 [7987323], family 2:III-2 [7987323], MCN ID: 19950015-999 daughter of 7987323_4; www.mcndb.org Edit
30 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
31 Gustavsson_ASHG2003 46, XX, t(7;9)(p21;p21) cleft palate, polydactyly, learning difficulties p21.2   HDAC9/ TWIST1$     Gustavsson et al., ASHG 2003, Program #853 Edit
32 Stoler_2005 46, X? [del(7)(p21.2p21.2), not visible] Saethre Chotzen syndrome; ptosis, cleft palate, asymmetric face (esp., nose), small ears (no craniosynostosis, no brachy- or syndactyly, no hallux valgus) p21.2 p21.2 TWIST1$ TWIST1$ two cases microdeletion of 18 bp within TWIST1 (NM_000474) (case 1), and his father had dramatic unilateral ptosis, asymmetric nose, and hallux valgus; reported at Annual Clinical Genetics Meeting, 2005 (#125) Edit
33 15726498_2 46, XY, t(4;7;8;17)(4qter-> 4p15.2::17q25-> 17qter; 7qter-> 7p15::4p15.2-> 4pter; 8pter-> 8q12.2::7p21.2-> 7pter; 17pter-> 17q25::8q12.2-> 8qter) de novo [amniotic fluid] acampomelic campomelic dysplasia (CD), cleft palate, micrognathia, increased nuchal fold, prominent citerna magna, small mouth, posteriorly rotated ears, nail and digital abnormalities, skeletal anomalies, normal female external genitalia, ovaries devoid of oocytes, died of respiratory complications after 3 weeks p21.2 p15 RP11-764N24/ RP11-233O19   15726498 patient 2 Velagaleti et al., ASHG 2003, Program #807 & ASHG 2004, Program #946 Edit
34 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
35 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
36 12548740 46, XX, del(7)(p15.1p21.1) de novo bilateral anophthalmia, cryptophthalmos, temporal remnant eye tags, bilateral cleft lip, unilateral cleft palate, proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, bilateral external auditory canal atresia p21.1 p15.1     12548740     Edit
37 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
38 537019_1 46, XY, del(7)(p13p21) de novo psychomotor retardation, brachydactyly (esp. thumbs), low set malformed ears, ptosis, high arched palate, rhizomelic shortening of the upper and lower limbs, other anomalies, hypoplstic genitalia, hypospadias, midfrontal hemangioma p21 p13     537019, 6800299, 7521123, 1519644, 7116680, 9520255, 12548740 case 1 (case 5 in Table 2) [537019], h [7116680], b [7521123], case 3 [12548740]   Edit
39 926137 46, XY, der(22)t(7;22)(p21;q13) pat heart abnormalities, small mandible, severe mental and motor retardation, high broad palate, split uvula, microbrachycephaly p21       926137, 7083611, 2679090, 2692511, 2363431, 10494083, 12818527 proband (IV-1) [926137], case 15 [2692511], case 34 [10494083] trisomy of 7p21-pter; father (lll-3), aunt (lll-6), uncle (lll-8), and grandfather (ll-2) had balanced t(7;22) and normal phenotype Edit
40 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
41 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
42 ECACC_91031202 46, XX, t(2;7)(q33;p21) de novo short stature, cerebral palsy, cleft palate p21       91031202 (cell line: BO0213) www.ecacc.org.uk; data unpublished Edit
43 10417281_1 46, XX, t(2;7)(q33;p21) de novo motor developmental delay, language delay, learning disabilities, cleft palate, prominent nasal bridge, small mouth, long and slender fingers p21       10417281 case 1, MCN ID: 19990006-999 www.mcndb.org Edit
44 539602_1 46, XX, rec(7)del(7)(p15p21) ins(7)(q22p15p21) mat psychomotor developmental retardation, microcephaly, low-set ears, wide cranial sutures, ocular hypotelorism, cleft palate, congential heart defect (tetralogy of Fallot, membranous VSD), bilateral hydronephrosis, imperforate anus, enlarged clitoris p21 p15     539602, 6800299, 1519644, 7521123, 12548740 patient 1 (III-3, preposita, RW 040676) [539602], case 10 [7521123], case 14 [12548740] deletion of 7p15-p21; daughter of 539602_II-15; niece of 539602_II-7 Edit
45 Toksoy_ESHG2006_1 46, XY, der(7)(pter-> p21::q34-> q31.2::p21-> p15.3::q11.23-> q31.2::p15.3-> q11.23::q34-> qter) de novo severe growth retardation, trigonocephaly, short neck, dysmorphic face, cleft palate, digital anomalies; died at 41 days of age p21 p15.3       Toksoy et al., ESHG, 2006, P0371 Edit
46 8488873_1 46, XX, der(9)t(7;9)(p15.3;p24) de novo developmental delay, hypotonia, widely spaced nipples, long fingers and toes, abnormal dermatoglyphics, high arched palate, epicanthic folds, upward slant of palpable fissures p15.3       8488873, 9084937, 10494083 patient 1 (K.H.) [8488873], case 33 [10494083] trisomy of 7p15.3-pter Edit
47 1920914 46, XY, t(1;7)(q31.2;p15.1-p15.3) de novo HMC syndrome: hypotelorism, microtia, cleft palate; speech delay, hypoplastic eyelids, abnormal ears, micrognathia, short anterior face p15.3 - 15.1       1920914 MCN ID: 19910002-999 first reported in Motohashi et al., 1985, Cong Anomal 25:181-90; MCN ID: 19910009-999 may be same patient or from same family; www.mcndb.org Edit
48 22565194 46,XX,del(7)(p15.3-p15.1).arr 7p15.3p15.1(20,469,062–30,5 82,316)Ă—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
49 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
50 489013_2 46, XX, t(1;7)(p22;p15)del(7)(p15) craniosynostosis, marked turricephaly, hypotelorism, deeply cleft palate, shallow orbits with prominent bulgind eyes, a depressed nasal bridge, anteverted nostrils, short hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15       489013, 3874588, 4043965, 1519644, 7521123, 12548740 case 22 [7521123], 5 [12548740]   Edit
51 490588_2 46, XY, der(22)t(7;22)(p15;q13) pat high arched palate, severely retarded, no speech p15       490588, 7083611, 2363431, 2679090, 2692511, 10494083 case 2 [490588], case 11 [2692511], case 20 [10494083] trisomy of 7p15-pter; father had balanced t(7;22); brother of 490588_1 Edit
52 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
53 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
54 3359679_1 46, XX, der(7)t(7;18)(p15;q23) pat brachycephaly, microphthalmos, absence of eyebrows, left choanal stenosis, microstomia with cleft palate, micrognathia, musculoskeletal abnormalities, cardiomegaly, genital abnormalities p15       3359679, 2679090, 2692511, 10494083 case 1 (A.III.2, Family A) [3359679], case 7 [2692511], case 24 [10494083] monosomy of 7p15-pter; father had balanced t(7;8) Edit
55 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
56 7083611_1 46, XY, der(8)t(7;8)(p13;p23) pat unusual facies, cleft palate, inguinal and umbilical herniae, heart murmur, respiratory problems, mentally and developmentally retarded, severe hypotonia, micrognathia p13       7083611, 2679090, 2692511, 10494083 case 1 (Houston) [7083611], case 6 [2692511], case 13 [10494083] trisomy of 7p13-pter; father had balanced t(7;8) Edit
57 MCN_19960001-031 46, XX, t(7;16)(p13;q22) cleft hard palate p13       MCN ID: 19960001-031 www.mcndb.org Edit
58 DGAP_147 46, XX, t(7;13)(p13;q34) at three months presented with hypotonia, tachypnea and poor feeding; diaphragmatic hernia (surgically repaired); severe eczema; dysmorphic features including prominent ears, upturned pointed nose, high palate, abnormally shaped mouth, small chin, downslanting palpebral fissures, and sparse eyebrows; bilateral hip dislocation and talipes; moderate learning disabilities; generalized seizure at 11 months, responded to valproate, at 7 years seizure free; muscle dysfunction/d ystrophy; significant constipation p13       147 http://www.bwhpathology.org/d gap/ Edit
59 1483693 47, XX, + mar de novo [+der(7)t(X;5;7)(p22.1;q35;p13q21) detected by FISH] mental retardation, short stature, short palpebral fissures, convex/beaked profile of nose, small mandible/micrognathia, single palmar crease, high palate p13 q21     1483693 PL trisomy of p13-q21 Edit
60 DGAP011 46, XY, t(7;8)(p12.3;p11.2) Kallmann syndrome - hypogonadotropic hypodonadism (atrophic testes, azoospermia), cleft lip and palate, no anosmia p12.3   rs11766862/ rs4724565   16061567 DGAP011 breakpoint at 7p lies in intron 15 of TENS1, but disruption of this gene does not seem to contribute to the patient's abnormalities; http://www.bwhpathology.org/d gap/ Edit
61 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
62 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
63 16007665 47, XX, +r. ish r(7)(::p11.1-> q11.21::). ish 7p11.1-q11.1(D7Z1×1), 7p11.2(bA10F11×1), 7q11.21(bA3N2×1) [15]/ r(7;7)(::p11.1-> q11.21::p11.1 -> q11.21::). ish 7p11.1-q11.1(D7Z1×2), 7p11.2(bA10F11×2), 7q11.21(bA3N2×2) [4]/ r(7;7;7;7)(::p11.1-> q11.21::p11.1 -> q11.21::q11.21-> p11.1::q11.21-> p11.1::). ish 7p11.1-q11.1(D7Z1×4), 7p11.2(bA10F11×4), 7q11.21(bA3N2×4) [1]/ 46,XX [10] psychomotor development, congenital heart defect, facial dysmorphism (broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, dysplastic ears), long hands, fingers, feet and toes, hypotonia p11.1 q11.21     16007665     Edit
64 7913578 46, XX, t(7;7)(7p7p;7q7q) short stature, growth retardation, slightly triangular-shaped face, hight arched and narrow palate, prominent occiput, slight limb asymmetry, small pituitary gland p11 q11     7913578, 11483637 proband isodisomy for paternal 7p and maternal 7q ; mother was a carier of inv(16)(p12.2q22) Edit
65 MCN_19910001-293 46, XY, ins(7;14)(p11;q11.2q13.2) de novo mental retardation, anteverted nostrils, terminal hypoplasia of toes, deeply grooved philtrum, macroglossia, anteverted/prominent/b at ears, hypoplastic/s mall nostrils, round face, abnormal plantar creases, high vaulted and narrow palate, other dental abnormality, hypotonia, dysphagia/feeding difficulty p11       MCN ID: 19910001-293 www.mcndb.org Edit
66 3781561 46, XX, del(7)(p21) trigonocephaly with craniosynostosis, high palate, atrial septal defect, anal atresia, perineal fistula, slightly retarded pyschomotor development pter p21     3781561, 1519644, 7521123, 12548740 case 24 [7521123], case 19 [12548740]   Edit
67 7116680_CPG 46, XY, del(7)(p21) de novo prominent forehead with ridged metopic sutures, small low-set ears, short palpebral fissures, epicanthic folds, flat nasal bridge, cleft palate, preputial hypospadias, club-foot, no craiosynostosis pter p21     7116680, 3874588, 7521123 CPG [7116680], case 12 [7521123]   Edit
68 489013_1 46, XX, t(1;7)(p22;p15)del(7)(p15) craniosynostosis, marked turricephaly, hypotelorism, deeply cleft palate, shallow orbits with prominent bulgind eyes, a depressed nasal bridge, anteverted nostrils, short hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation pter p15.2     489013, 3874588, 4043965, 1519644, 7521123, 12548740 case 22 [7521123], 5 [12548740]   Edit
69 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
70 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
71 11477611_1 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties pter p10     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
72 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
73 7341641 47, XX, +7/ 46, XX [skin-right forearm]
46, XX [blood, skin-left forearm]
plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery pter qter     7341641, 10594874, 12124684, 16092121     Edit
74 ECACC_94100312 46, XY, ?del(7) holoprosencephaly, diabetes insipidus, cleft lip & palate pter qter     94100312 (cell line: FE0001) possible microdeletion of chr. 7; www.ecacc.or.uk Edit
75 648176_proposita_1 46, XX, rec(7)dup(7q)inv(7)(p22q32) pat plagiocephaly, thoracic asymmetry with scoliosis, sternal recession, high arched palate, mental and motor developmental delay, hypotonic limbs, rib abnormalities pter p22     648176, 539602, 7521123, 7390476, 11113903 proposita (III-5, Family G111WH) [648176], 6 in Table 1 [539602], case 26 [7521123], case 12 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; daughter of 648176_father, first cousin of 648176_cousin Edit
76 648176_cousin_1 46, XX, rec(7)dup(7q) inv(7)(p22q32) mat mental retardation, small stature, small hands and feet, small low-set ears, unable to rotate head, high arched palate, prognathism pter p22     648176, 7521123, 7390476 first cousin (III-2, Family G111WH) [648176], case 14 [7521123], case 13 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; first cousin of 648176_proposita Edit
77 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
78 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
79 16530708_2 46, XY [del(7)(pter) de novo was detected by genotyping & FISH] developmental delay, flat forehead, slightly down-slanted palpebral fissures, broad nasal bridge, flared nostrils, short philtrum, high-arched palate, square chin, depigmented areas over the right hand, severe myopia pter pter     16530708 family 2 D7S2477 (7p22.3) on paternal allele and RPCI-1-164D18 (7p22.3) were deleted in genotyping and FISH, respectively Edit
80 17163527 46, XY, dup(7)(p22.1pter) de novo low birth weight, mental retardation, severe motor and speech delays, hypotonia, posteriorly-rotated ears, depressed nasal bridge, anteverted nostrils, long philtrum, high palate, upslanted palpebral fissures, downturned corner of mouth, bilateral cryptorchidism pter p22.1 TRIAD3/ C7orf28A   17163527   ~5-Mb duplication Edit
81 20181190 46,XY,upd(7)mat recessivecongenital myotonia, wide-based awkward gait, stiffness in lower limbs, 2 febrile seizures, language delay, dorso-lumbar scoliosis, macrocephaly, small face, broad forehead, deep set eyes, micrognathia, high arched palate, clubfoot pter qter     20181190     Edit
82 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
83 11477611_2 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties q10 qter     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
84 12687662_del(7q) 4?, X?, del(7q) intrauterine growth retardation, cleft lip and palate q10 qter     12687662 del(7q) in Table 5   Edit
85 10797441_1 47, XX, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) mat [50%]/ 46, XX [50%] developmental delay, mild mental retardation, severe speech delay, dysmorphic facies (flat profile, high nasal bridge, prognathia, simply formed ears, downslanting palpebral fissures, bifid uvula, midline cleft palate), right simian creases, genua valga q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 1 [10797441], case C [15337469], ref. 7 [16007665] first child of 10797441_3 Edit
86 458833_2 46, XX, del(7)(q11q22) de novo mental & developmental retardation, growth delay (pre- & post-natal), severely impaired hearing, no speech, brachycephaly, prominent forehead, marked micrognathia, cleft palate, sacral dimple, hypotonia q11 q22     458833, 6758992, 2194394, 1456281, 15732063 case 2 [458833], case 5 [6758992], case 10 [2194394], case 11 [1456281]   Edit
87 6655677 46, XY, dup(7)(q11q22) de novo growth delay, developmental delay, prominent metopic suture, enophthalmos, high arched palate, genitourinary anomalies q11 q22     6655677, 12407716, 8602998, 12818530, 11531975     Edit
88 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
89 MCN_19780005-086 46, XY, t(7;12)(q11;q15) mat mental retardation, abnormal skull, undescended/e ctopic testes, high vaulted and narrow palate, seizures q11       MCN ID: 19780005-086 www.mcndb.org Edit
90 MCN_19780001-086 46, XY, t(7;12)(q11;q13) mental retardation, abnormal skull, undescended/e ctopic testes, high vaulted and narrow palate q11       MCN ID: 19780001-086 www.mcndb.org Edit
91 6609672_D1 46, XX, del(7)(q11.2q22.1) de novo unilateral split hand (rt), bilateral split foot, microcephaly, servere mental retardation, microcephaly, cleft palate q11.2 q22.1 ASL$/ HGF D7S651/ D7S662 6609672, 2194394, 2301476, 1456281, 8023840, 7987313, 7616545, 8782053, 15732063 MH 810502 [6609672], case 7 [2194394], ref. O [2301476], case 10 [1456281], D1 [8023840, 7987313], ref. 6 [8782053]   Edit
92 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
93 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
94 Vekemans_ASHG1982 46, XY, dup(7)(q11.2q22) de novo Robin anomalad, severe microretrognathia, glossoptosis and cleft of the secondary palate, absence of geniourinary malformation q11.2 q22     11531975   Vekemans et al., 1982, Am J Hum Genet 34: A148, abstract #416 Edit
95 3169748 46, XX, del(7)(q11.21q11.23) de novo Zellweger syndrome, severe muscular hypotonia, prolonged jaundice, hypoxia, high arched palate, systolic murmur, hepatomegaly, colpocephaly, chorioretinal degeneration, respiratory failure q11.21 q11.23     3169748     Edit
96 6199974_3 46, XX, del(7)(q11.21q21.11) de novo abnormal EEG, unusual facial appearance, flat occiput, narrow forehead, downslanting palpebral fissures, puffy eyelids, epicanthal folds, broad nose with bulbous tip, micrognathia with thick lips, high palate, early breast development, deep sacral dimple, bilateral inguinal hernias, thin limbs q11.21 q21.11     6199974, 2194394, 1456281 patient 3 [6199974], case 4 [2194394], case 5 [1456281]   Edit
97 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
98 7160842_2 46, XX, dup(7)(q11.22q11.23)inv(7)(q11.23q22) mat huge head, left sided anopththalmia, high arched palate, excessive hydrocephalus with almost inappreciable brain substance, genital anomalies q11.22 q11.23     7160842, 6392555, 3491573, 3546078, 7717416, 11531975 N.S. [7160842], ref. 21 6392555] mother had inv(7) Edit
99 16840569_16 46, XX, del(7)(q11.22q11.23) de novo autism (DMS-IV), Williams syndrome, normal growth, hypospadias, motor developmental delay, language delay, dorsolumbar scoliosis, dysmorphic features (anteverted nares, long philtrum, malar hypoplasia, narrow palate) q11.22 q11.23 RP4-635O5/ RP11-313P13 AC004883/ RP11-107L23 16840569 case 16 deletion of maternal origin Edit
100 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
101 7160842_1 46, XX, dup(7)(q11.22q11.23)inv(7)(q11.23q22) mat huge head, left sided anopththalmia, high arched palate, excessive hydrocephalus with almost inappreciable brain substance, genital anomalies q11.23 q22     7160842, 6392555, 4040824, 3491573, 3546078, 7717416 N.S. [7160842], ref. 21 6392555] mother had inv(7) Edit
102 Toksoy_ESHG2006_2 46, XY, der(7)(pter-> p21::q34-> q31.2::p21-> p15.3::q11.23-> q31.2::p15.3-> q11.23::q34-> qter) de novo severe growth retardation, trigonocephaly, short neck, dysmorphic face, cleft palate, digital anomalies; died at 41 days of age q11.23 q31.2       7q11.23-q31.2 was inserted into 7p15.3; Toksoy et al., ESHG, 2006, P0371 Edit
103 21980823_MK 46,XY,del(7)(q11.23q11.23) Asperger's, Williams syndrome, ADHD, thick lips, epicanthal folds, flat nasal bridge, dysplastic ears, narrow high palate, short stature, bilateral position abnormality in the 2nd and 3rd toes, Sydney line in left hand, clinodactyly q11.23 q11.23     21980823 MK   Edit
104 24246242 4?,XX.arr 7q11.23(73,450,375-73,532,1 93) x1 de novo [hg19] atypical WBS, SVAS, pulmonary stenosis, vascular abnormalities, delays in fine motorskills, full cheeks, broad foreheadwith mild frontal bossing, nevus flammeus on glabella, depressed nasal bridge, short nose, narrow long philtrum, micrognathia, periorbital swelling (later resolved), high arched palate,high gluteal cleft, clinodactyly on left fifth toe q11.23 q11.23       ~81.8 kb deletion involves the ELN and LIMK1 genes only Edit
105 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
106 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
107 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
108 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
109 15326624_1 46, XY, t(5;7;6)(6pter-> 6p24::7q21.1 ->7q21.3::5p13.2 5qter; 7pter-> 7q21.1::5p13.2-> 5pter; 7qter-> 7q21.3::6p24-> 6qter) de novo [del(7q) was detected by Array-CGH] mental and developmental retardation, growth delay, language processing disorder, bilateral cleft lip/palate, sensorineural hearing loss in the right ear, recurrent otitis media, upslanting palpebral fissures, broad nasal bridge, flaring of the alae nasi, mild pectus excavatum, clinodactyly of 5th fingers q21.1 q21.3     15326624 proband   Edit
110 20082467_1 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q21.11 q21.3 rs12540580/r s7384064 rs17166393/r s6465422 20082467 index patient   Edit
111 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
112 Humphreys1991_patient 46, XY, der(2)ins(2;7)(p15;q21.12q31.32) mat [inferred] abnormalities of hands and feet, small eyes with downward slanting palpebral fissures, flat nasal bridge, small, upturned nose, low set, abnormal ears and micrognathia; high palate, nipples widely spaced, long fingers q21.12 q31.32     12407716, 11531975 patient tirosmy of 7q21.12-q31.32; first reported in Humphreys et al., 1991, J Med Genet 28: 574 Edit
113 7987313_D5 46, XY, del(7)(q21.12q21.3) bilateral split hand/split foot, submucous cleft palate, abnormal dentition, micrognathia, low-set ears, full scale IQ of 70 q21.12 q21.3   DLX5/ D7S1610 7987313, 8733122 D5   Edit
114 18080328_3 46,XX,inv(7)(q22.1q31.2)t(7;8)(q21.3q22.1; q23.3q24.12) [del(7)(q21.13q21.13) detected by microarray] ectrodactyly of right hand and feet, tetralogy of Fallot, cleft palate, deafness, craniofacial dysmorphic features, psychomotor delay, delayed developmental milestones, increased biparietal diameter, mandibular hypoplasia, sparse scalp hair, bulbous nose tip, long flat philtrum, and protruding ears, hypoplasia of shoulder girdle, pectus carinatum q21.13 q21.13 CTB-128M16/R P11-215P16 RP11-215P16/R P5-1084H12 18080328 propositus ~450 Kb deletion containing PFK1 and FZD1 genes Edit
115 11045577 46, XY, del(7)(q21.2q31.2) de novo ectrodactyly, congenital glaucoma, cleft palate, congenital heart defect (VSD), genital anomalies q21.2 q31.2     11045577     Edit
116 9350823_proband 46, XX, ins(22;7)(q13.3;q21.2q22.1) limited intellectual ability, retromicrognathia, high arched palate q21.2 q22.1     9350823 proband (II-1)   Edit
117 11536263_1 46, XX, der(21)t(7;21)(q21.2;p12) mat dysmorphic features, cleft palate, anomalies of the great vessels, intestinal malrotation, uterus bicornis q21.2       11536263 patient 1 trisomy of 7q21.2-qter; mother carried balanced t(7;21) Edit
118 11536263_2 46, XX, der(4)t(4;7)(q35;q21.2) pat cleft palate, cerebellar hypoplasia, anomalies of pancreas, gall bladder and appendix q21.2       11536263 patient 2 trisomy of q21.2-qter; father carried balanced t(4;7) Edit
119 9350823_son 46, XY, der(22)ins(22;7)(q13.3;q21.2q22.1) mat high arched palate, hypotonia, global developmental delay, micrognathia, undescended testes q21.2 q22.1     9350823 son (III-3) trisomy of 7q21.2-q22.1 Edit
120 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
121 7987313_T6 46, XY, inv(1)(q21q32), t(4;7)(q31.1;q21.3), inv(11)(p15.1q23) bilateral split hand/split foot, submucous cleft palate, deafness, mental retardation (IQ=30), microcephaly, abnormal ears q21.3   stSG48566/ RH36420   7987313, 8782053, 8733122, 8733122, 12690205, 15517824 T6 phenotypicall normal mother and two siblings had normal karyotype (father -DNA unavailable) Edit
122 1773535_1 46, XX, t(7;9)(q21.3;p12) pat syndactyly of right hand, bilateral split foot, light coloured sparse hair, high arched palate, abnormal ears q21.3   D7S479/ D7S1848   1773535, 8403456, 7987313, 8733122, 12690205 patient 1 [1773535], T5 [8403456, 7987313, 8733122, 10049579] father (pt. 2) and grandfather (pt. 3) had same translocation; karyotype was revised based on further FISH analysis Edit
123 DGAP014 46, XY, t(3;11)(q23;q21), t(7;der(11)t(3;11))(7pter->7q21.3::3q27->3qter; 11pter->11q21::3q23->3q27::7q21.3->7qter) frontonasal dysostosis, atrial septal defect, micropenis, hypoplastic scrotum, small undescented testes, retarded bone age, seizures, severe neuronal migration abnormalities, absent corpus callosum, absence of gyral pattern in left hemisphere, hypoplastic brainstem, scoliosis, clubfeet, epiblepharon, inability to fully abduct the eyes, myopic astygmatism, high arched narrow palate, tapering fingers, short fifth finger of the left hand, bilateral simian creases. Severe developmental delay q21.3       DGAP014 http://www.bwhpathology.org/d gap/ Edit
124 DGAP119 46, XY, inv(7)(q22.3q35)mat. ish 22q11.2 (TUPLE 1 x 2) cleft palate, abnormal pinnae, conductive hearing loss in one ear, re-evaluation pending, micrognathia, right accessory lateral incisor, small 5th toenails q21.3 q35     DGAP119 (son) son of DGAP115, sibling of DGAP117 and DGAP118; http://www.bwhpathology.org/d gap/ Edit
125 11531975 46, XX, inv dup(7)(q21.3q35) de novo short stature, psychomotor retardation, muscular hypotonia, seizures, dysmorphic features, congenital heart defect, high arched cleft palate, micrognathia, strabismus q21.3 q35     11531975     Edit
126 ECACC_99032504_1 46, XX, ins(7)(?q21.3?q22?q31.1)pat small at birth, growth hormone deficiency, cleft palate, hearing loss q21.3       99032504 (cell line: CC0208); MCN ID: 19940001-032 daughter of ECACC_99032503; www.ecacc.or.uk; www.mcndb.org Edit
127 MCN_19940001-032_1 46, XX, ins(7)(q21.3q22q31.1) pat cleft hard palate, GH-deficiency, Hearing abnormal congenital/a cquired, small for gestational age (IUGR) q21.3       MCN ID: 19940001-032 www.mcndb.org Edit
128 7894731_D6 46, XY, del(7)(q21.1q21.3-22.1) bilateral split hand/split foot, mild mental retardation, growth retardation, hypotonia, low-set malformed ears, micrognathia, long philtrum, high narrow palate, conductive hearing loss q21.3 q21.3 D7S527/ D7S1812   7894731, 8733122, 8782053, 15732063 D6 [7894731, 8733122], ref. 17 [8782053] first reported in Hudgins et al., 1994, Am J Hum Genet 55 (Suppl.):A107, #609; molecular cytogenetic data is not consistent with karyotype Edit
129 18080328_2 46,XX,inv(7)(q22.1q31.2)t(7;8)(q21.3q22.1; q23.3q24.12) [del(7)(q21.13q21.13) detected by microarray] ectrodactyly of right hand and feet, tetralogy of Fallot, cleft palate, deafness, craniofacial dysmorphic features, psychomotor delay, delayed developmental milestones, increased biparietal diameter, mandibular hypoplasia, sparse scalp hair, bulbous nose tip, long flat philtrum, and protruding ears, hypoplasia of shoulder girdle, pectus carinatum q21.3 q22.1 RP11-15F5 RP11-10D8 18080328 propositus ~2.5 Mb translocated Edit
130 20082467_3 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q21.3       20082467 index patient   Edit
131 19707792_119 46,XY,inv(7)(q21.3q35) mild sensorineural hearing loss in right ear, moderate mixed hearing loss in left ear, micrognathia, cleft palate, femoral head necrosis, right accessory lateral incisor, bilateral small 5th toenail, abnormal pinnae (small posteriorly rotated with overfolded superior helices) q21.3 q35 RP11-879E11 RP11-643A21 19707792 DGAP119, child of DGAP115 ~5000 bp deletion of 7q21.3 detected by sequencing Edit
132 24167464 46,XX.arr 7q21.3q31.1(96,742,140-109,246,0 85)Ă—1 dn congenital glaucoma, abnormal MRI, psychomotor retardation, cleft palate, heart defect, big eyes, blue sclerae, wide fontanelles, prominent eyebrows, low-set ears with overfolded helix, upslanting palpebral fissures, telecanthus, bulbous nasal tip, hypoplastic nasal alae, short columella, thin lips, marked Cupid’s bow, micrognathia, bilateral single palmar crease, bilateral fifth finger clinodactyly q21.3 q31.1     24167464   ~12.5-Mb deletion Edit
133 Dennis_1977 46, XY, del(7)(q22q32) de novo developmental retardation, hypotonia, passive, bilateral congenital glaucoma, posterior cleft palate, systolic murmur (ASD), cryptochidism q22 q32     2301476, 11045577 ref. D [2301476] Dennis et al., 1977, Am J Hum Genet, 29:37A Edit
134 885733 46, XY, t(7;13)(q22;q32) pat mental and physical retardation, wide-spaced eyes, underdeveloped facial bones, small chin, high and narrow palate, buffalo neck, kyphosis, double scoliosis q22       885733 RH, MCN ID:19740001-027 father, two of his sisters and one nephew of his have same translocation, but are all clinically normal; www.mcndb.org Edit
135 8322806_T4 46, XY, ins(3;7)(q21;q34q22) de novo unilateral split hand (right), bilateral split foot, high arched palate, bifid uvula, normal cognitive development q22 q34 stSG48566/ RH36420   8322806, 8023840, 7987313, 8733122, 8782053, 10049579, 12690205 T4 [8023840, 7987313, 8733122, 10049579], ref. 13 [8782053], MCN ID: 19930011-999 www.mcndb.org Edit
136 8436660 46, XY, inv(7)(q22q31.3) hirsutism, ringed creases of the extremities, Michelin tire syndrome, facial dysmorphism, submucous cleft palate, seizures, development delay q22 q31.3     8436660, 7717416 reference 78 [7717416]   Edit
137 Hull_1979 46, XX, del(7)(q22q32) de novo unusual cry, low-set ears, hypotonia, downturned mouth, highly arched palate, developmental delay q22 q32     2301476, 11045577 ref. G [ 2301476] Hull et al., 1979, Am J Hum Genet 31:97A Edit
138 11078569 46, XX, dup(7)(q22q31.3) de novo growth and pyschomotor retardation, microcephaly, frontal bossing, high arched and narrow palate, hirsutism q22 q31.3     11078569 HB   Edit
139 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
140 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
141 ECACC_99032504_2 46, XX, ?dir ins(7)(q21.3?q22?q31.1)pat small at birth, growth hormone deficiency, cleft palate, hearing loss q22 q31.1     99032504 (cell line: CC0208); MCN ID: 19940001-032 daughter of ECACC_99032503; www.ecacc.or.uk; www.mcndb.org Edit
142 MCN_19940001-032_2 46, XX, dir ins(7)(q21.3;q22q31.1) pat cleft hard palate, GH-deficiency, Hearing abnormal congenital/a cquired, small for gestational age (IUGR) q22 q31.1     MCN ID: 19940001-032 www.mcndb.org Edit
143 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
144 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
145 18496206 46,XY,t(6;7)(p11-p12;q22) autism, severe mental retardation, non-verbal, developmental delay, episodes of extremely violent behaviour, sleep disturbance, submucous cleft palate, wide-set eyes, long philtrum, bifid uvula, coarse facial features with prominent brow and mild synorphoris, long down slanting palpebral fissures, small ears, full lips, broad lateral palatine ridges, pigmented macular lesion on left cheek, occipital midline mass q22   RP11-157M10/G 248P87576C5   18496206 propositus father has same karyotype, affected with learning and behavioural problems, discussion of NPTX2 and TMEM130 as candidate genes Edit
146 8298740_T7 46, XX, inv(7)(q22.1q36.3) pat ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome: bilateral split hand/split foot, light coloured sparse hair, bilateral cleft lip and palate, fused incisors, bilateral accessory nipples q22.1 q36.3 D7S2480/ D7S477   8298740, 7987313, 7717416, 8782053 T7 [7987313], reference 144 [7717416], ref. 12 [8782053], MCN ID: 19930007-999 phenotypically normal father had same inversion; www.mcndb.org Edit
147 18080328_1 46,XX,inv(7)(q22.1q31.2)t(7;8)(q21.3q22.1; q23.3q24.12) [del(7)(q21.13q21.13) detected by microarray] ectrodactyly of right hand and feet, tetralogy of Fallot, cleft palate, deafness, craniofacial dysmorphic features, psychomotor delay, delayed developmental milestones, increased biparietal diameter, mandibular hypoplasia, sparse scalp hair, bulbous nose tip, long flat philtrum, and protruding ears, hypoplasia of shoulder girdle, pectus carinatum q22.1 q31.2 RP11-80P24 RP11-643M13 18080328 propositus   Edit
148 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
149 19161136 46,XY,der(21)t(7;21)(q32;q22.3)mat Silver–Russell syndrome, hypogammaglobulinemia, bilateral inguinal hernia, subcostal retractions,b ilateral crackles, perimembranous ventricular septal defect, prominent forehead, triangular face, large fontanelle,l ow-set ears, small mouth, thin upper lip, high archedpalate, strabismus, bilateral single palmer transverse crease, kyphoscoliosis,l imb asymmetry, clubfoot q22.3       19161136   mother had three miscarriages and is carrier of translocation Edit
150 7228036 46, XX, del(7)(q31q34) de novo growth retardation, developmental retardation, peculiar cry (cat-like), microcephaly, low-set ears, thin upper lip, high palate, right hand with digitalized thumb and Sydney-type flexion crease q31 q34     7228036, 7154049, 3879441, 3265313, 7228036 ref. 6 [7154049]   Edit
151 4714589 46, XY, der(14)t(7;14)(q31;qter) pat failure to thrive, recurrent pneumonias, micrognathia, incomplete cleft palate, ventricular septal defect q31       4714589, 4438062, 7390476, 1084120 case 8 [7390476] trisomy of 7q31-qter; father had balanced t(7;14) Edit
152 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
153 Rajcan-Separovic_ASHG2003 46, XY, t(5;7;6)(p13.2;q21.1q21.3;p24) [del(7)(q31q31) detected by FISH and CGH arrays] bilateral cleft lip and palate, hearing loss, idiopathic mental retardation q31 q31       clones CTB-133K23 (q31.31) and RP11-112P4 (q31.32) were deleted in proband , but not in his mother : mother and sister had learning disabilities; Rajcan-Separovic et al., ASHG 2003, Program #819 Edit
154 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
155 15517824 46, XX, t(6;7)(p25;q31) de novo posterior cleft palate q31       15517824 MCN ID: 20040002-999 third child from first-degree consanguineous marriage; first and second children were diagnosed with Aase-Smith syndrome type II; www.mcndb.org Edit
156 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
157 Movotna_ESHG2005_2 46, XX, t(1;11)(p31.1;q21), del(7)(q31.1q34) de novo lip-palate-maxilla cleft, facial dysmorphism, mild-to-moderate psychomotor retardation q31.1 q34     second patient, 2-year-old girl Movotna et al., ESHG, 2005, #P0339 Edit
158 2653684_1 46, XX, der(22)t(7;22)(q31.2;q13.3) mat dysmorphic features, high palate, mircognathia, holosystolic murmur, small membranous ventricular septal defect q31.2       2653684 case report #1 trisomy of 7q31.2-qter Edit
159 3789011_1 46, XY, der(18)t(7;18)(q31.2;q23) mat growth retardation, mental retardation, inverted nipples, minor craniofacial anomalies, cleft palate, ambiguous genitalia, vermis hypoplasia, apneic spells q31.2       3789011, 12818530 case 1 (V-7) trisomy 7q31.2-7qter; mother had balanced t(7;18); 3789011-2 was third cousin once removed Edit
160 3789011_2 46, XY, der(18)t(7;18)(q31.2;q23) mat growth retardation, minor craniofacial anomalies, cleft palate, hypoplasia of the corpus callosum, ambiguous genitalia, apneic spells q31.2       3789011 case 2 (VI-3) trisomy 7q31.2-7qter; mother had balanced t(7;18); 3789011_1 was third cousin once removed Edit
161 12407716_2 46, X, der(Y)t(7;Y)(q31.2;q21). ish (WCP7+) de novo microretrognathia, cleft palate, micropenis with palpable testes, camptodactyly, clinodactyly, Hirschprug disease q31.2       12407716 patient 2 trisomy of 7q31.2-qter Edit
162 Toksoy_ESHG2006_3 46, XY, der(7)(pter-> p21::q34-> q31.2::p21-> p15.3::q11.23-> q31.2::p15.3-> q11.23::q34-> qter) de novo severe growth retardation, trigonocephaly, short neck, dysmorphic face, cleft palate, digital anomalies; died at 41 days of age q31.2 q34       7q31.2-q34 was inserted into 7p21; Toksoy et al., ESHG, 2006, P0371 Edit
163 15326624_2 46, XY, t(5;7;6)(6pter-> 6p24::7q21.1 ->7q21.3::5p13.2 5qter; 7pter-> 7q21.1::5p13.2-> 5pter; 7qter-> 7q21.3::6p24-> 6qter) de novo [del(7q) was detected by Array-CGH] mental and developmental retardation, growth delay, language processing disorder, bilateral cleft lip/palate, sensorineural hearing loss in the right ear, recurrent otitis media, upslanting palpebral fissures, broad nasal bridge, flaring of the alae nasi, mild pectus excavatum, clinodactyly of 5th fingers q31.3 q31.3 RP11-110C11/ CTB-133K23 RP11-112P4/ RP11-81B7 15326624 proband   Edit
164 20082467_2 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q31.31 q35 RP5-1047E14 RP4-545C24 20082467 index patient   Edit
165 3119853 46, XY, del(7)(q32) de novo [alternative interpretation: del(7)(q23.1q36.1)] holoprosencephaly, hydrocephalus, absence of suprarenal glands, hydranencephaly, one nostril, anophthalmia, cleft palate, small penis, imperforate anus, severe craniofacial abnormalities q32 qter     3119853, 8135290, 8326499     Edit
166 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
167 912940_4 46, XY, del(7)(q32) de novo cleft lip/palate, flat nose, brachycephaly, malforned and misaligned teeth, large ears with prominent antitragi, slight pectus excavatum, very small penis, bilateral cryptorchidism, right inguinal hernia, mildly hypotonic, mental retardation q32 qter     912940, 537019, 6758992, 8135290 case 4 (F.C.) [912940], case 11 [537019], case 20 [6758992] probably holoprosencephaly (+) Edit
168 6533358 46, XY, del(7)(q32) de novo mental and growth retardation, wide and flat face with a prominent forehead, heavy cheeks, bulbous nose with a fleshy, flattened tip, thick lips, small and round chin, flattened occiput, high-arch palate, short neck, wide-spaced nipples, protruding heels, left double ureter and double pelvis, epileptic seizure q32 qter     6533358, 8135290 S.N. father had 47, XYY Edit
169 6859113 46, XX, del(7)(q32) de novo holoprosencephaly (cebocephaly with microphthalmia), single nostril, bilateral cleft of hard palate, maxillary hypoplasia, absense of frenulum pudendi q32 qter     6859113, 8135290, 8326499     Edit
170 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
171 1327590_2 46, XX, t(2;3)(q32.2;p24.2)inv(2)(p21q32.2), t(7;18)(q32;q12.2), del(10)(p13) de novo bilateral cleft lip and palate, slow pre and postnatal growth, minor congenital anomalies, microcephaly, vesicoureteral reflux with bilateral hydronephrosis/- ureter q32       1327590 patient 2   Edit
172 2653684_2 46, XX, der(5)t(5;7)(p15.3;q32) pat dysmorphic features, partial cephalhematoma, high arched palate, systolic ejection murmur q32       2653684 case report #2 trisomy of 7q32-qter Edit
173 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
174 3981581_IV-7 46, XY, der(1)t(1;7)(q43;q32), t(1;6)(p22.3;q14.1), t(3;10)(q26.1;p11.21) mat severe mental retardation, dysmorphic features, high arched palate, prominent nasal beaking q32       3981581, 15517824 IV-7, uncle trisomy of 7q32-qter; uncle of 3981581_V-4 Edit
175 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
176 648176_proposita_2 46, XX, rec(7)dup(7q)inv(7)(p22q32) pat plagiocephaly, thoracic asymmetry with scoliosis, sternal recession, high arched palate, mental and motor developmental delay, hypotonic limbs, rib abnormalities q32 qter     648176, 539602, 7521123, 7390476, 11113903 proposita (III-5, Family G111WH) [648176], 6 in Table 1 [539602], case 26 [7521123], case 12 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; daughter of 648176_father, first cousin of 648176_cousin Edit
177 Penchaszadeh_ASGH1982 46, XY/XY, der(7)t(1;7)(q32;q32) pat growth and mental retardation, seizures, macrocephaly, frontal prominence, enlarged intracranial ventricles, downward eye slant, low set ears, long philtrum, high arched palate, pectus excavatum, ventricular septal defect, pulmonic stenosis, long fingers and 9/10 whorls on fingertips q32       8135290 two 2-year-old first cousins (male and female) monosomy of 7q32-qter; Penchaszadeh et al., Am J Hum Genet 34: 138A, 1982 Edit
178 12575020_proband2 46, XX, der(7)t(1;7)(q32;q32) pat hypotelorism, flat nose, cleft lip, cleft palate q32       12575020 proband 2 amniocytes; monosomy of 7q32-qter; pregnancy was terminated at 24 weeks Edit
179 648176_cousin_2 46, XX, rec(7)dup(7q)inv(7)(p22q32) mat mental retardation, small stature, small hands and feet, small low-set ears, unable to rotate head, high arched palate, prognathism q32 qter     648176, 7521123, 7390476 first cousin (III-2, Family G111WH) [648176], case 14 [7521123], case 13 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; first cousin of 648176_proposita Edit
180 8209918 46, XX, t(7;20)(q32.1;q13.2) de novo Smith-Lemli-Opitz syndrome type II, positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, ptosis, anteverted nares, cleft palate, low serum cholesterol levels; died at 5 months of age q32.1   WI-10680/ SHGC-144155   8209918, 7762564, 9024559 RD [8209918], UF53 [7762564, 9024559], MCN ID:19940014-999 www.mcndb.org Edit
181 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
182 Phalen_ASHG2003_mother 46, XX, dup(7)(q32.3q34) moderate mental retardation, long thin face, high frontal hairline, slightly low-set ears, long philtrum, high-arched palate q32.3 q34     mother mother of Phalen_ASHG2003_propositus; Phalen et al., ASHG 2003, Program #644 Edit
183 1544217 46, XX, del(7)(q33q35) de novo speech and developmental delay, cleft lip/palate, conductive deafness q33 q35     1544217, 16222668     Edit
184 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
185 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
186 24411055 46,XX,del(7)(pter / q32:) dn.arr 7q33(135,353,693-158,602,4 99)x1 semilobar holoprosencephaly, premaxillary dysgensis (bilateralcleft lip/cleft palate), massive left pleural effusion, ascites, hydrops fetalis,flat/b road nasal bridge, upslanting palpebral fissures q33 qter     24411055 22 week aborted fetus ~23.25Mb deletion Edit
187 3354600 46, XY, del(7)(q34) de novo hypertelorism, bilateral cleft lip/palate, cryptorchidism, complex congenital heart defect q34 qter     3354600, 8135290 JP   Edit
188 6423801 46, XY, del(7)(q34) de novo microphthalmus, large retinal colobomas, microcephaly with widely split cranial sutures, bilateral cleft lip/palate, broad nose, imperforate anus with sacral agenesis, severe mental and physical retardation q34 qter     6423801     Edit
189 8309904 46, XX, der(7)t(7;18)(q34;q21.3) mat growth retardation, bilateral cleft lip/palate, absence of median cerebral structures, semilobar holoprosencepaly q34       8309904, 15517824   monosomy of 7q34-qter Edit
190 12868476_mother 46, XX, t(7;13)(q34;q34). ish t(7;13)(wcp7+, STS2000H-, wcp13+mv, D13S327+mv; wcp13+, D13S327-, wcp7+mv, STS2000H+mv) phenotypically normal q34       12868476 mother mother of 12868476_1; she had abortion at 22 weeks (patient 2: extreme hydrocephalus, cleft palate, distal arthrogryposis, club feet, no chromosome analysis) Edit
191 1475246 46, XX, del(7)(q34) severe growth retardation at birth, low-set ears, cleft lip and palate, short neck, coarctation of the aorta, hepatic fibrosis q34 qter     1475246, 8135290 fetus placental biopsy showed 46,XX karyotype Edit
192 12589098 46, XX, der(7)t(2;7)(q37.3;q34) pat high forehead, flattened face, narrow and upward slanting palpebral fissures, fine eyebrows, flat nasal bridge, low-set and posteriorly rotated ears, cleft lip and palate, retrognathia q34       12589098 fetus (16 weeks) monosomy of 7q34-qter; father had balanced t(2;7) Edit
193 477406_1 46, XY, t(7;18)(q35;q12.2) del(7)(q34q36) mat microcephaly, mental retardation, cleft palate, small chin q34 q36     477406, 8485580, 8938447, 9508065, 15517824 238 [8485580], GM00657 similarly affected cousin; clinically normal mother has balanced t(7;18) in lymphocytes; GM00657: fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
194 Krüger_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 Krüger et al., ESHG 2004, P0041 Edit
195 8985736_index 46, XX, der(7)t(7;8)(q34;p12) mat facial dysmorphism including cleft lip/palate, broad nasal bridge, short neck with minimal nuchal skin edema q34       8985736 index patient (18-week fetus, III-20) monosomy of 7q34-qter; aborted fetus of 8985736_mother Edit
196 2241085_2 46, XY, der(7)t(7;22)(q34;q13.3) pat hard cleft palate, micrognathia, hypoplasia of lower extremities below knees q34       2241085, 8485580, 8135290 case 2 (aborted fetus) [2241085], 393 [8485580] monosomy of q34-qter; father had balanced t(7;22) Edit
197 MCN_20040002-004 46, XX, t(7;10)(q34;q22) tricuspid valve defect, gastroesophageal reflux, malplaced anus, hypotonia, haemangioma - naevus flammeus, wasted/very thin build/FTT, high forehead, epicanthic folds, large mouth/macrostoma/l ateral cleft, low set ears, overlapping toes, hallux valgus, cleft hard palate with cleft soft palate q34       MCN ID: 20040002-004 www.mcndb.org Edit
198 16411217_IV-9 46, XX, der(7)t(7;13)(q34;q13) mat holoprosencephaly, proboscis, cleft palate, low-set ear, bilateral clubfoot; died on the first day of life q34       16411217 IV-9 monosomy of 7q34-qter; child of 16411217_III-6 Edit
199 16411217_IV-19 46, XX, der(7)t(7;13)(q34;q13) pat macrocephaly, wide-open fontanelles, broad cranial sutures, triangular face, cyclopia, proboscis, aniridia, narrow palate, prominent mandible, dysplastic & low-set ears, bilateral simian creases, omphalocele, pes valgus, lack of right kidney q34       16411217 IV-19 first cousin once removed of 16411217_II-6, second cousin of 16411217_IV-9 Edit
200 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
201 7235841 46, XY, del(7)(q35) de novo facial dysmorphism with a prominent forehead, large ears with poorly folded helices and prominent antihelices, bilateral epicanthi, bulbous nose with a flat base and upturned lip, long smooth philtrum, cleft palate, microretrognathia, widely spaced nipples, global hypotonia, sacral abnormality, hydronophrosis, microcephaly q35 qter     7235841, 3839444, 8135290 case 2 [3839444]   Edit
202 8533837_1 46, XY, inv dup(7)(q35qter) severe micrognathia, U-shaped cleft palate, bilateral posterior angulated ears, bilateral club feet, psychomotor developmental delay, respiratory problems, died at 1 month q35 qter     8533837, 10951456, 12017231 case 1 (B.S.) de novo or pat Edit
203 15057986_2 47, XX, +der(9)t(7;9)(q35;q22.2) mat unilateral cleft clip palate without other obvious defects or dysmorphic features q35       15057986 patient 2 (III-5) trisomy of 7q35-qter; mother (II-3) and sister (III-4) had balanced t(7;9)(q35;q22.2), cousin of 15057986_1 Edit
204 Numabe_1 del(7)(q35q36.3) microcephaly, brachycephaly, right blepharoptosis, right microphthalmia, hypotelorism, microtia, low nasal bridge, bulbous nose, anteverted nostril, high philtrum, microstomia, high-arched palate, short neck, short sternum, widely spaced nipples, large areola of nipples, pectus excavatum, left sacral dimple, sacral agenesis, growth retardation q35 q36.3 D7S505/ D7S483 D7S637/ D7S594 del(7)(q35q36.3) Numabe et al. - personal communication Edit
205 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
206 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
207 8896571_T2 46, XX, t(6;7)(p21;q36) de novo premaxillary agenesis (hypotelorism, flat nose, median cleft palate/lip), sensorineural hearing loss, adontia, cervical cord compression secondary to stenosis, normal brain CT, low-normal intelligence q36   SHH$/ sWSS2571   8896571, 9254845, 16143022 T2   Edit
208 1605268_1 46, XY, der(7)t(3;7)(p25.3;q36) pat Pallister-Hall syndrome, premaxillary agenesis, microphthalmia, cleft lip/palate, agenesis of nasal septum, micrognathia, micropenis, hypopituitarism, died at 5 weeks of necrotizing enterocolitis q36       1605268, 8135290, 10521829 patient 1 [1605268] monosomy of 7q36-qter; child of 9254845_556 Edit
209 2309771_familyM_infant 46, XX, der(7)t(4;7)(q31;q36) mat [inferred, not karyotyed] alobar holoprosencephaly, premaxillary agenesis with cleft lip/palate, aplasia of the nasal bridge, hydronephrosis q36       2309771, 8326499 family M, infant born at 37 weeks monosomy of 7q36-qter; infant of 2309771_familyM_mother Edit
210 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
211 6217930_t(1;7) 46, XX, t(1;7)(p35;q36) mental retardation, cleft hard palate, dislocated hip, hearing abnormal, flat foot, glaucoma, syndactyly (other than minimal 2nd and 3rd toes) q36       6217930 MCN ID: 19760001-311 www.mcndb.org Edit
212 9007318_4 46, XX, der(7)t(3;7)(p23;q36) de novo microcephaly, holoprosencephaly with premaxillary agenesis, orbital hypotelorism, absent premaxilla with cleft lip and palate, flat nose, intraabdominal cystic mass of probable renal origin q36       9007318 case 4 monosomy of 7q36-qter Edit
213 MCN_19980001-128 46, XX, del(7)(q36)mat mental retardation, cleft hard palate, abnormal cardiovascular structure/function q36 qter     MCN ID: 19980001-128 www.mcndb.org Edit
214 MCN_19880001-198 46, XY, t(4;7)(q21;q36) cleft hard palate, cleft soft palate/bifid uvula/submucous cleft, midline cleft lip, polycystic kidneys, talipes - varus/valgus q36       MCN ID:19880001-198 www.mcndb.org Edit
215 MCN_19920001-043 46, XY, t(7;11)(q36;q13.3) mat cleft hard palate, midline cleft lip, holoprosencephaly/a rhinencephaly q36       MCN ID: 19920001-043 www.mcndb.org Edit
216 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
217 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
218 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
219 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
220 6418421_IV-4 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, microcephaly, bilateral rocker bottom feet, malformed auricles, cryptorchidism q36       6418421, 8135290 patient IV-4 monosomy of 7q36-qter; second cousin of 6418241_IV-2, 6418241_IV-3 and 6418241_IV-1; mother and maternal grandmother had balanced t(4;7) Edit
221 6418241_IV-1 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, microcephaly, bilateral rocker bottom feet, malformed auricles, hypospadias q36       6418421, 8135290 patient IV-1 monosomy of 7q36-qter; second cousin of 6418241_IV-2, 6418241_IV-3 and 6418241_IV-4; mother had balanced t(4;7) Edit
222 van Galen_ASHG2004 46, XY, der(4)t(4;7)(q35;q36) de novo mild developmental delay, ADHD, macrocephaly, hypotonia, V shaped cleft palate, small VSD, bilateral optic nerve hypoplasia, short palpebral fissures, epicanthal folds, short upturned nose, long simple philtrum, small simple posterior rotated ears q36       ZY trisomy of 7q36-qter; van Galen et al., ASHG 2004, Program #737 Edit
223 477406_2 46, XY, t(7;18)(q35;q12.2)del(7)(q34q36) mat microcephaly, mental retardation, cleft palate, small chin q36   TCRB/ D7S505   477406, 8485580, 8938447, 9508065, 15517824 GM00657, 238 [8485580] similarly affected cousin; clinically normal mother has balanced t(7;18) in lymphocytes; GM00657: fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
224 15264280_8 46, XY. ish der(7)t(7;11)(q36;p15.5)(7pSUBTEL-, D11S2071+) mat multiple congenital anomalies, growth retardation, severe mental retardation, cleft lip and palate, sacral agenesis with a tethered cord, hypospadias with chordee, feeding difficulties, failure to thrive, chronic otitis media, mild bilateral hearing loss, chronic upper respiratory tract infections, seizures, cortical visual impairment, microphthalmia, hypothyroidism, precocious puberty, bowel and bladder incontinence, blepharophimosis with horizontal palpebral fissures, distachiasis, absent nasal bridge, depressed nasal tip, cupped and protruding ears, depressed premaxillary region, malaligned teeth, flattened occiput, inferiolaterally displaced nipple, partial syndactyly of the hands, single transverse palmer creases, tapering fingers, distal finger contractures with decreased flexion creases, adducted thumbs, short palms, diffuse hypotonia, absent deep tendon reflexes q36       15264280 patient 8 monosomy of 7q36-qter; healthy mother with a history of three 1st trimester miscarriages had balanced t(7;11) and der(13;14) Edit
225 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
226 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
227 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
228 11702209_14 46, XY, der(2)t(2;7)(p25.2;q36.1) pat severe microcephaly, bilateral cleft lip and palate, seizures, severe mental retardation q36.1       11702209 case 14 trisomy of 7q36.1-qter; same translocation was found in female fetus with microcephaly and bilateral cleft lip and palate, and finally confirmed in the proband; parents declined telomere screening; terminal deletion was detected in paternal uncle; four siblings of father died early after birth Edit
229 Pappas_ASHG2005_3 4?, X?, del(7)(q36.1q36.3) speech delay, developmental delay, prominent forehead, upslanted palpebral fissures, bulbous nasal tip, high arched palate, flat feet q36.1 q36.3     case 3 D7S427 (7q36.3) was not deleted; Pappas et al., ASHG 2005, Program #599 Edit
230 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
231 15200505_14 46, XX, der(7)t(1;7)(p36.31;q36.2) pat severe mental retardation, postnatal growth retardation, developmental delay, microcephaly, depressed nasal bridge, high-arched eyebrows, ptosis, bilateral coloboma, esotropia, prominent philtrum, cleft palate, downturned corners of mouth, low set ears, four finger line, short 5th toes, hypoplastic distal feet phalanges, patent ductus arteriosus, atrial septal defect, renal hypoplasia, chronic renal failure, dislocated anus, chronic constipation q36.2   RP11-422E4/ RP11-177P15   15200505 patient 14 monosomy of 7q36.2-qter; breakpoint at 7q lies at 4 Mb from the telomere; father had balanced t(1;7) Edit
232 23401163 46,XY,del(7)(q36.1 q36.3).arr 7q36.2q36.3(153,206,357–156,1 33,135)x1 dn [hg19] congenital eye abnormalities, short stature, tracheomalacia, deviated septum, bilateral vertical talus, failure to thrive, long thin face, bitemporalnarrowing, midface hypoplasia, depressed nasal bridge, longnasal ridge, smooth short philtrum, thin upper lip vermillion, tapered fingers, proximal implantation of thumbs, short fifthfinger, pes planus, high palate, absence of two incisors q36.2 q36.3     23401163     Edit
233 8911601_2 46, XY, r(7)(p22q36) del(7)(q36.3q36.3) [90]/ 45, -7 [8]/ 46, XY, dup r(7) [1]/ 47, XY, r(7), +r(7) [1] hypotelorism, proptosis, single nostril, cleft lip/palate, ambiguous genitalia, semilobar holoprosencephaly q36.3 q36.3     8911601, 9254845 859 [9254845]   Edit
234 DGAP040 46, XY, t(7;8)(q36.3;q22.3) cleft lip and palate, hypodontia, microcephaly, malrotation of the gut, complex partial seizures q36.3       DGAP040 http://www.bwhpathology.org/d gap/ Edit
235 15211664_4 46, XY. ish der(7)t(7;9)(q36.3;p24.1)(D7S550-, G31340-, D9S1681/ D9S1686/ D9S1813 mv) de novo growth and developmental delay, feeding difficulties, bilateral sensorineural hearing loss, speech delay, mild facial asymmetry, medial flare of eyebrows, sparse lateral eyebrow, broad nasal septum, short philtrum, cleft palate, unevenly spaced teeth, abnormal ears with dysplastic lobes, small tragus, muscular hypotonia, scoliosis q36.3       15211664, 15294281 patient 4 [15211664], patient 9 [15294281] monosomy of 7q36.3qter (deletion size > 3.6 Mb) Edit
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