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 11005146_2 45, XY, psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) de novo craniosynostosis, microcephaly, scaphocephaly, bilateral cataracts, dysmorphic facies (frontal bossing, epicanthal folds, prominent ears, broad short nose with a low nasal bridge, micrognathia, retrognathia), bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, deep palmar creases, developmental delay, hypospadias, curvature of the penis, hypotonia p22.3       11005146, 12548740 case 22 [12548740]   Edit
2 24458843 4?,XX.arr 7p22.3(46,845–665,1 58)x3 de novo sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broadfinger tips, short distal phalanx of fingers, swan neck deformity offingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, unilateral clubfoot, midface retrusion, telecanthus, overhanging nasal tip, flat nose, broad and low hangingcolumella, wide nasal base, crowded teeth, low-set ears,pectus carinatum p22.3 p22.3     24458843   ~618 kb duplication Edit
3 12457405 46, XX, der(7)t(7;16)(p22.3;q24.1) de novo [detected by FISH & CGH] psychomotor and mental retardation, high forehead with bitemporal narrowing, broad nasal bridge, broadened nose, downslanting palpebral fissures, abnormal ears, vertebral abnormalities, cardiac defect, genital hypoplasia, anal abnormalities p22.2 - 22.1   D7S531/ D7S517   12457405   monosoy of 7p22.3-pter (by FISH); molecular cytogenetic data is not consistent with karyotype Edit
4 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
5 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
6 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
7 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
8 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
9 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
10 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
11 624544_proband 46, XY, der(7)t(7;12)(p22;p11) mat mental and motor retardation, hypotonia, high prominent forehead, flat occiput, flat face, broad eyebrows, nystagmus, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, short neck, short fingers and toes, spade-shaped tapering fingers p22       624544 proband, IV-3 (VR) monosoy of 7p22-pter; mother had balanced t(7;12) Edit
12 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
13 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
14 1002161 46, XY, del(7)(p15p22) de novo craniosynostosis, turricephaly, hypotelorism, optic atrophy, low-set ears, stenotic auditory canals, bifid uvula, submucous cleft, transverse creases, severe developmental retardation p22 p15     1002161, 711238, 539602, 7116680, 3874588, 4043965, 1519644, 7521123, 12548740 5 in Table 1 [1002161, 539602], case 21 [7521123], case 13 [12548740]   Edit
15 3874588 46, XY, der(7)t(2;7)(q3?;p22) de novo craniosynostosis, scaphocephaly, trigonocephaly, upslanting palpebral fissures, low set & poorly lobulated ears, large mouth with thin upper lip, short neck, wide-set hypoplastic nipples, small penis, hypospadias, general hypotonia, abnormal fingers and feet, died at 2.5 years of age p22       3874588, 7521123 case27 [7521123] monosomy of 7p22-pter Edit
16 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
17 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
18 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
19 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
20 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
21 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
22 18255367_3 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21.3   RP11-737N20   18255367 proband   Edit
23 18255367_4 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21.3 p21.3 RP11-455K15   18255367 proband ~690 Kb deletion involving TWIST gene detected by microarray 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 7987323_4 46, XY, t(2;7)(q21.1;p21.2) small ears with prominent crura, deviated nasal septum p21.2   D7S488/ D7S493   7987323, 9259286, 7783164 case 4 [7987323], family 2:II-2 [7987323] father of 7987323_4-daughter with classical Saethre-Chotzen Edit
26 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
27 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
28 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
29 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
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 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
34 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
35 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
36 2714786 46, XY, t(2;7)(q34;p21)del(2)(q34q36) de novo developmental retardation, low-set ears, micrognathia, short neck, abundant skin of the neck, tetralogy of Fallot, bipartite labia-like scrotum, clitoris-like penis, cryptorchism, deformities of the hands and feet p21       2714786 proband, 5-month-old boy   Edit
37 8280871_baby 69, XXX, rec(7)dup(7p)inv(7)(p21q32), rec(7)dup(7q)inv(7)(p21q32) pat prominent occiput with open posterior fontanelle, low-set and small ears, iris colobomata, microphthalmia, possible glaucoma, hypotelorism, prominent nose, microstomia, hypoplastic external genitalia, bilateral complete 3/4 syndactyly of fingers, syndactyly of VI-V toes on the left, equinus deformity on the right foot, holosystolic murmur, enlarged heart, died the day after birth p21 q32     8280871 baby balanced rearragement Edit
38 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
39 18255367_1 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21       18255367 proband   Edit
40 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
41 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
42 MCN_19950001-114 46, XY, t(2;7)(p21;p15.3) mental retardation, everted/protuding lips, autism, abnormal ear shape/structure, anteverted/prominent/b at ears, seizures p15.3       MCN ID: 19950001-114 www.mcndb.org Edit
43 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
44 22631585 4?,XY.arr 7p15.3-p15.1(22,460,185-29,360,9 60)x1 de novo hand-foot-genital syndrome, developmental delay, speech delay, clinodactyly of 5th fingers, curved and broad great toe, short toes, low-set ears, posterior rotated ears, bifrontal narrowing forehead, short stature, neonatal feeding difficulty p15.3 p15.1     22631585   ~6.9 Mb deletion, paternal origin Edit
45 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
46 Shetty_ASHG205_1 46, XX, t(7;8)(p15.2;q11.2)del(7)(p21p21) de novo [refined by FISH] craniosynostosis, trigonocephaly and brachiocephaly, short upslanting palpebral fissures, short nose with broad nasal bridge & anteverted nares, mild micrognathia, small simple ears with deep concha, broad full lips with a tented upper lip, anteriorly placed anus, bilateral proximally-placed thumbs and toes p15.2         Shetty et al., ASHG 2005, Program #864 Edit
47 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
48 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
49 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
50 3777028 46, XX, t(1;6;7;3;11)(11;22;21)(1qter->1p22::11p15-> 11pter; 6qter-> 6p21:: 1p22->1pter; 7qter-> 7p15:: 6p21-> 6pter; 3pter-> 3q27::7p15-> 7pter; 3qter-> 3q27 :: 11p15 -> 11q11::21q11-> 21qter; 22qter -> 22p11:11q11 -> 11qter; 21pter-> 21q11::22p11-> 22pter) de novo sclerocornea, corneal staphyloma, microcephaly, hirsutism, prominent ears with hypoplastic helix, retrognathia, wide-set nipples, hypoplastic thumbs, fifth finger clinodactyly, ectrodactyly of the left foot p15       3777028, 1327590 KCMC-90261   Edit
51 7083611_2 46, XX, der(21)t(7;21)(p15;p12) mat severe developmental retardation, distinctive facies, large anterior fontanel, low-set ears, heart murmur, feeding problems p15       7083611, 7083611, 2679090, 2692511, 2363431, 10494083 case 2 (Erlangen) [7083611], case 9 [2692511], case 21 [10494083] trisomy of 7p15-pter 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 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
54 MCN_19760001-086 46, XX, t(7;22)(p15;q12) abnormal skull, abnormal plantar creases, low set ears, micrognathia/a gnathia total/retrognathia p15       MCN ID: 19760001-086 www.mcndb.org Edit
55 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
56 McGavran_ASHG1989 46, XY, t(2;16)(q13;q13), del(6)(p2?), ins(7)(p15), inv(8)(p12q24.3) mild learning disabilities, language delay, unusual facies, synophrys, low-set ears, bilateral absence of tear ducts, low posterior hairline, bilateral accessory nipples, mild hypotonia, normal IQ p15       7-year-old male Am J Hum Genet. 1989; 34:135A, #379 Edit
57 MCN_19930002-222 46, XX, del(7)(p11.2p15) macrocephaly, agenesis/hypoplasia of kidneys, simian creases, depressed nasal bridge, low set ears, hypotonia p15 p11.2     MCN ID: 19930002-222 www.mcndb.org Edit
58 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
59 MCN_19970160-224 46, XY, t(1;7)(p32;p15) mental retardation, low set ears p15       MCN ID: 19970160-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; 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 Unpublished_28126 46, XY, der(8)t(7;8)(p15;p23). ish der(8)t(7;8)(p15;p23)(wcp7+, wcp8-) de novo congenital dislocated hip (left), plagiocephaly, preauricular sinus, hypospadias, low set ears, right undescend testis, left simian crease p15       28126 trisomy 7p15-pter; data unpublished Edit
62 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
63 7521123_a 46, X?, del(7)(p13p13) pat [karyotype not given] Greig cephalopolysyndactly syndrome, psychomotor retardation, cardiac defects (VSD, PDA, PA), broad flat nasal bridge, low set malformed ears p13 p13     7521123, 9520255 a deletion from unbalanced product of paternal balanced insertional translocation Edit
64 6316787_3 46, XX, t(3;7)(p21.1;p13) pat [not karyotyped, but assumed] Greig cephalopolysyndactyly syndrome, died of at 2.5 years of medulloblastoma p13       6316787, 2545596 patient 3 (IV-4) [6316787] sister of 6316787_1 & 2 Edit
65 9297439_Noel 46, XY, t(7;9)(p13;p25) infertility (45 years) p13       9297439 5 (Noel, personal communication) in Table III, MCN ID: 19940009-999 www.mcndb.org Edit
66 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
67 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
68 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
69 2606480 46, XX, inv(7)(p12q11.23) de novo Zellweger syndrome; hypotonia, high and bossed forehead, wide anterior fontanel, narrow palpebral fissures, short nose with depressed nasal bridge, malformed large ears, micrognathia, heart defects p12 q11.23     2606480     Edit
70 7449183_2 46, XX, t(X;3;7;21)(Xpter-> q27::3p11-> pter; 3p11-> q12::7q21-> qter; 7pter-> p12::q21-> 3q12-> qter; Xq28::21q21-> p12::q21->qter) de novo mental retardation, brachycephalic, flat facies, low-set incompletely outfolded ears, depressed nasal bridge, shortened uvula, four toes on the right foot, severe psychomotor delay, mild generalized hypotonia p12 q21     7449183 GD, MCN ID: 19800001-999 www.mcndb.org Edit
71 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
72 22987336 46,XY.arr 7p12 (47,034,222-52,175,6 39)x3 de novo [hg19] postnatal overgrowth, developmental delay, microcephaly, seizures, hypopigmented macules, large ears p12 p12     22987336   5.1 Mb duplication; discussion of GRB10 as candidate gene Edit
73 13680362_13 47, XX, +mar [26] de novo/ 46, XX [14] [peripheral blood]
r(7)/ r(7;7) de novo (2 subclones) [cenM-FISH]
7q+; pcp7q+; cep7+r(7)(::p11.1->q11.21::) [15]/ 7q++; pcp7q++; cep7++ r(7;7)(::p11.1-> q11.21::p11.1-> q11.21::) [4]/ 7q++++; pcp7q++++; cep7++++r(7;7;7;7)(::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::) [1] (3 subclones) [subcenM-FISH]
aorta insufficiency, aorta root ectasia; atrial septal defect, side ventricles enlarged with plexus cyst, dysacusis on both ears p11.2 q11.21     13680362 case 13   Edit
74 18049079_B.D. _2 46, XY, upd(7), +r(7)(p11.2q21) pat Russell-Silver syndrome, intrauterine growth retardation, feeding difficulties, retarded bone age, growth retardation, motor development delay, low set ears/ear anomalies, muscular hypoplasia, triangular face, micrognathia, blue sclerae p11.2 q21.12     18049079 B.D. dizygotic twin Edit
75 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
76 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
77 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
78 16007665 47, XX, +r. ish r(7)(::p11.1-> q11.21::). ish 7p11.1-q11.1(D7Z11), 7p11.2(bA10F111), 7q11.21(bA3N21) [15]/ r(7;7)(::p11.1-> q11.21::p11.1 -> q11.21::). ish 7p11.1-q11.1(D7Z12), 7p11.2(bA10F112), 7q11.21(bA3N22) [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(D7Z14), 7p11.2(bA10F114), 7q11.21(bA3N24) [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
79 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
80 4752863 46, XX, del(7)(p15), 13ps [or t(7;13)(p?;p?)del(7)(p14p14)] craniosynostosis, acrocephaly, developmental delay, low-set ears, low nasal bridge, transverse palmar crease (rt), antimongoloid slant, small sacral dimple pter p10     4752863, 1002161, 711238, 537019, 7116680, 4043965, 3874588, 7521123 case 3 [537019], d [7116680], case 25 [7521123]   Edit
81 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
82 3096136 46, XY, del(7)(cen-q11.2) severe mental retardation, spastic quadriplegia, narrow forehead, short nose, long ears and philtrum, malar hypoplasia, peridontal disease, pulmonic stenosis, severe kyphoscoliosis cen q11.2     3096136, 3354600, 2194394, 1456281 case 3 [2194394], case 4 [1456281]   Edit
83 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
84 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
85 2679090_2 46, XY, dup(7)(p14.2-pter) low-set ears, atrial septal defect, cerebral polymicrgyria pter p14.2     2679090, 8839888 patient 2 [2679090], Ref. 14 [8839888]   Edit
86 2679090_3 46, XY, dup(7)(p14.2-pter) low-set ears, beaked nose, micrognathia, prominent forehead, bilateral contractures of the wrists and fingers, gena recurvata pter p14.2     2679090, 8839888 patient 3 [2679090], Ref. 14 [8839888]   Edit
87 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
88 12210300_2 46, XX, t(7;16)(q21;q24) mat, upd(7) mat IUGR, growth retardation, prominent forehead, low-set ears, triangular face, clinodactyly of 5the finger, no mental retardation [suspected of Silver-Russell syndrome] pter qter     12210300, 11483637   mother had same translocation; maternal heterodisomy 7 Edit
89 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
90 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
91 79982_86 45, XX, ins(3;3)(q26;q21q26), -7 acute myeloid leukemia, thrombocythemia; cervical carcinoma (6.5 years before) pter qter     79982, 7272506, 6575860, 6627222, 3965107, 1581880 86 [79982], 25 [7272506], 1 in Table 3 [6575860], 2 in Table 3 [3965107], ANLL-2 [1581880, Appendix 1] first reported in Sweet et al., 1979, Cancer Genet Cytogenet 1:33-37; Mitelman Database, Reference No. 265 & 492 Edit
92 3812554 47, XY, +7 [42]/ 46, XY, +7 with random loss [3]/ 46, XY [11] [umbilical cord cells]
46, XY [21] [skin fibroblasts]
low-set ears, flattened face, renal dysplasia, pulmonary hypoplasia pter qter     3812554, 12124684, 12407716, 16092121     Edit
93 8328459_B 47, XY, +r(7) pat [100%] high and narrow forehead, down-slanting palpebral fissures, low-set ears, micrognathia, normal development but low performance pter qter     8328459, 11241494, 15337469, 16007665 case B [8328459, 15337469], case H [11241494], ref. 3 -5 [16007665]   Edit
94 11146466_44 46, XX, upd(7) mat intrauterine growth retardation, cerebral hemorrhage, feeding difficulties, triangular face with broad and high forehead, pointed chin, low-set, prominent and dysplastic ears, clinodactyly of 5th fingers and toes, psychomotor developmental delay -Russell-Silver syndrome pter qter     11146466, 12210294 case 44 heterodisomy Edit
95 Wilson_1973 46, XX, del(7)(p?) or t(7;13)(p?;p?) synostosis of coronal suture, microcephaly, downslanting palpebral fissures, low-set ears, severely retarded pter p10     3 in Table 1 Wilson et al., Cytogenet Cell Genet 12: 209-214, 1973 Edit
96 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
97 12605443 47, XX, +7 [13]/ 46, XX [19] [amniocytes]
47, XX, +7 [50] [cord blood]
47, XX, +7 [19] [postpartum chorionic villus]
47, XX, upd(7)mat, +7 [9]/ 46, XX, upd(7)mat [20] [skin]
upd(7)mat [confirmed by microsatellite markers, peripheral blood]
posterior-rotated low-set ears, prominent forehead, small chin, triangular face, obstructed left nares, prominent nasal bridge, reversed epicanthal folds, thin lips, small mouth, micrognathia, bilateral clinodactyly of V finger, bridged Simian crease on left hand pter qter     12605443, 16007591, 16302164   trisomy 7- two maternal and one paternal chromosomes & maternal uniparental heterodisomy Edit
98 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
99 1248176 46, XY, 20q+ [der(20)t(7;20)(p?;q?), inferred] mental retardation, 22 of IQ, feeding problems in infancy, micrognathia, low-set ears, genu valgum, asymmetric face and skull, thin & long nose pter p10     1248176, 2363431 M60 (GP170545) trisomy 7p Edit
100 953215 47, XY, +C [possibly, +7] flattened nasal bridge, posteriorly rotated low-set ears, prominent occiput, short neck, tapered fingers, clinodactyly of 5th dingers, bilateral diffuse renal dysplasia, pulmonary hypoplasia, died 17 hours after birth pter qter     953215, 6733951, 10594874   Trisomy 11 (+C) was suggested in the first paper [953215] Edit
101 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
102 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
103 12124684 47, XY, +7 [7]/ 46, XY [2] [amniotic fluid, 16 wks' gestation]
46, XY [blood, 20 wks' gestation]
46, XY [blood, 3yr 6m]
47, XY, +7 [36]/ 46, XY [64] [pigmented skin, 3yr 6m]
47, XY, +7 [24]/ 46, XY [76] [hypopigmented skin, 3 yr 6m]
facial asymmetry, congenital ptosis of left eye, facial paresis on left side, short left palpebral fissure, hypotonic, hypopigmentation on trunk and limbs following Blaschko's lines, enamel dysplasia, low-set & posteriorly rotated ears, sparse hair, undescended testes pter qter     12124684, 16302164 proband   Edit
104 9110367_VII-1 47, XY, +7 [48%]/ 46, XY [amniocytes]
46, XY [60] [blood]
46, XY [10] [skin]
phenotypically normal at 4.5 years of age pter qter     9110367, 16302164 VII-1, AF9640   Edit
105 9110367_VII-2 47, XY, +7 [36.6%]/ 46, XY [amniocytes]
46, XY [203] [cord blood]
46, XY [100] [blood]
47, XY, +7 [18]/ 46, XY [20] [foreskin]
phenotypically normal at 4 years of age pter qter     9110367, 16302164 VII-2, A1336-91   Edit
106 9855612 48, XY, +4, +7 [20] phenotype not given - mother had incomplete abortion at the gestational age was 8~9 weeks [detected ultrasound] pter qter     9855612 abortus mother was 42 years old Edit
107 7316468 48, XY, +7, +10 phenotype not given; mother had spontaneous abortion pter qter     7316468   advanced maternal age - 37 years old Edit
108 Aboura_ASHG2006 46, XX. ish der(7)t(7;13)(qter+;qter-) (BACs+,BACs-), rev ish enh(7)(qter)dim(13)(qter) de novo psychomotor developmental delay, wide forehead, long face, large nose, very small low implanted & posterior rotation ears, heavy cheeks, double chin qter qter       monosomy of 7qter; Aboura et al., ASHG 2006 Edit
109 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
110 17011994 47, XY, -7, +mar1, +mar2 [6]/ 46, XY [18] acute myeloid leukemia; Hiroshima survivor 60 years after the atomic bomb pter qter     17011994     Edit
111 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
112 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
113 21204802_1 Prenatal:46,X Y; Postnatal skin fibroblasts:46,XY[12]/47,X Y, +7[8],upd(7) mat Russell–Silver syndrome, low-set posteriorly rotated ears, hypopigmentedskin, developmental delay, inferior limbsasymmetry pter qter     21204802     Edit
114 21204802_2 Prenatal:46,X Y; Postnatal skin fibroblasts:46,XY[12]/47,X Y, +7[8],upd(7) mat Russell–Silver syndrome, low-set posteriorly rotated ears, hypopigmentedskin, developmental delay, inferior limbsasymmetry pter qter     21204802   Maternal heterodisomy for long arm and proximal short arm, distal short arm showed maternal isodisomy Edit
115 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
116 Unpublished_2 4?, XY, del(7)(q?) speech delay, easily distracted, dwarf like stature,webbed fingers/toes, large simple ears q10 qter     2 data unpublished Edit
117 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
118 10797441_2 47, XY, +r(7). ish r(7)(wcp+, D7S520+, D7S659/499-, D7S494-) mat [50%]/ 46, XX [50%] psychomotor development delay, severe speech delay, dysmorphic features (flat profile, high nasal bridge, prognathia, simply formed ears, downslanting palpebral fissures) q10 q11.2 D7S494/ D7S520   10797441, 15337469, 15580634, 16007665 2 [10797441], case D [15337469], ref. 7 [16007665] third child of 10797441_3 Edit
119 4037859_propositus 46, XX, der(7)t(7;17)(q?;p?) pat microcephaly, hypotelorism, ptosis, thin narrow face, minor epicanthal folds, prominent root of the nose, columella extending below alae nasae, mild midface hypoplasia, everted lower lip, prominent simple ears, webbed neck, general muscle hypotonia with stiff gait, short incurved fifth fingers, primitive palmar crease, proximally placed fifth toes q10 qter     4037859, 8135290 propositus father, brother had balanced t(7;17); cousin of 4037859_cousin Edit
120 4037859_cousin 46, XY, der(7)t(7;17)(q?;p?) mat hypotelorism, ptosis, thin narrow face, minor epicanthal folds, prominent root of the nose, columella extending below alae nasae, mild midface hypoplasia, everted lower lip, prominent simple ears, webbed neck, general muscle hypotonia with stiff gait, short incurved fifth fingers, primitive palmar crease, proximally placed fifth toes, kyphosis q10 qter     4037859, 8135290 cousin mother had balanced t(7;17) and spontaneous abortion; cousin of 4037859_propositus Edit
121 6758992 46, XY, del(7)(q11q21.2) de novo abnormal facies, broad nasal bridge, anteverted nares, short palpebral fissures with mongoloid slant, low-set ears, umbilical hernia, small penis with terminal meatus, bifid scrotum, generalized hypotonia q11 q21.2     6758992, 2194394, 1456281, 15732063 Baby S [6758992], case 13 [2194394], case 15 [1456281]   Edit
122 6680429 46 XY, del(7)(q11q21-22) de novo mental retardation, tremor, microcephaly, retrognathia, low-set ears, general muscular hypotonia, bilateral ectrodactyly of feet (II of the right and II, IV, V of the left missing), syndactyly of III and IV of the right foot q11 q21 - 22     6680429, 2194394, 2301476, 1456281, 7616545, 8782053, 15732063 case 11 [2194394], ref. N [2301476], case 13 [1456281], ref. 5 [8782053]   Edit
123 6644770 46, XY, t(2;4;7)(7;8)(2pter-> 2q14::7q11-> 7q22::8q13-> 8qter; 4pter-> 4q31::2q14-> 2qter; 7qter-> 7q11::4q31-> 4qter; 8pter-> 8q13::7q22-> 7qter) de novo mild mental retardation; dysmorphic facies: narrow nasal bridge, epicanthic folds, low-set prominent and cave-like ears; clinodactyly of 5th finger, metatarsus varus deformity of the left foot, syndactyly (other than minimal 2nd and 3rd toes) q11 q22     6644770 MCN ID 19830001-135 www.mcndb.org Edit
124 8821848_Ib-1 46, XY, der(1)t(1;7)(p36.3;q11) [82.8%]/ 46, XY [17.2%] low-set abnormal ears, imperforate anus, dysmorphism, mental retardation q11       8821848 case Ib-1 trisomy of 7q11-qter; mosaicism was confirmed in blood- 3% abnormal cell Edit
125 Valentine_1977 46, XY, del(7)(q11q12) de novo mental & developmental retardation, microcephaly, pulmonary stenosis, anteverted nostrils, low-set ears, a partial facial palsy, undescended testes, rock-bottom feet q11 q12     631854, 537019, 2194394, 6758992, 3354600, 1456281, 15732063 case 18 [537019], case 16 [2194394], case 1 [6758992], case 21 [1456281] reported in Valentine & Sergovich, 1976, Birth Defect Conference, National Foundation/M arch of Dimes, p. 297 and Valentine & Sergovish, 1977, Birth Defects: Original Article Series 14(3B):261-262 Edit
126 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
127 MCN_19890002-032 46, XX, inv(7)(q11.2q22) small hand, simian creases, broad foot, short foot (including brachydactyly), low set ears q11.2 q22     MCN ID: 19890002-032 www.mcndb.org Edit
128 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
129 20635338; Huang_ASHG2008 46,XY,t(6:7)(q14;q11.2)de novo PDD-NOS, language, fine motor and visual receptive skill delays; epicanthal folds,prominent slightly low-set ears, broad nasal bridge, thick nasal tip, anteverted nares, deep furrowed philtrum, micrognathia, mild left fifthfinger clinodactyly q11.2   RP11-451M8   20635338   Huang et al., ASHG2008, Program #494 Edit
130 23650183 4?,XY.arr 7q11.2(69,070,983-69,827,8 66)x1 de novo [hg18] developmental delay, intellectual disability, hypotonic and fed poorly from birth, tongue tie, short stature, ptosis, mildtremor, heartshaped face, high broad forehead with bilateral cowlicks, soft fine hair, large front teeth, extra teeth in the upper jaw, prominent and slightly posteriorly rotated ears, mild micrognathia,a rched eyebrows, shawl scrotum q11.2 q11.2 AUTS2 (exon3) AUTS2 (exon6) 23650183   ~683–806 kb deletion Edit
131 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
132 1773535_3 46, XY, t(7;9)(q11.21;;p12) fixed flexion at the distal interphalangeal joint of the 4th fingers of both feet, hearing loss, lost his light of his right eye at 23 years of age q11.21       1773535 patient 3 (II-2) grandfather of 1773535_1, father of 1773535_2 Edit
133 Seo_ASHG2004 46, XY, dup(7)(q11.22q21.2) de novo developmental delay, hypotonia, speech delay, low-set ears, very small mouth q11.22 q21.2 RP11-458F8/ RP11-325K1 RP11-665O4/ RP11-126A20 21823 Seo et al., ASHG 2004, Program #731 Edit
134 20186810_3 46,XY,rec(7)dup(7q)inv(7)(p22.3q11.22).ish rec(7)(pVYS231A+,D7S486/D 7S522+,ELN/LIMK1/D 7S613+;pVYS230A-,ELN/LIMK1/D 7S613+,D7S486/D7S522+,p VYS231A+).arr 7p22.3(52,899–1,948,072)x1,7 q11.22q11.23(71,760,154-–76,1 08,223)x3,7q11.23q36.3(76,434,8 28–158,801,1 52)x3 mat stillborn, growth retardation, micrognathia, ventricular septal defect, aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, cerebellar hypoplasia, receding chin, flattened nasal bridge, low set abnormally folded ears q11.22 q11.23     20186810   mother's karyotype: 46,XX,inv(7)(p22q11.2).ish inv(7) Edit
135 2929660 46, XY, del(7)(q11.23q22) de novo, fra(17)(p12) mat severe mental retardation, microcephaly, malformed ears, ectrodactyly of right hand and both feet, conergent strabismus, micrognathia, genital anomalies q11.23 q22     2929660, 2194394, 2301476, 1456281, 7616545, 8782053, 15732063 case 9 [2194394], ref. P [2301476], case 12 [1456281], ref. 7 [8782053] mother had fra(17) Edit
136 12210300_1 46, XX, t(7;16)(q21;q24) mat, upd(7) mat IUGR, growth retardation, prominent forehead, low-set ears, triangular face, clinodactyly of 5the finger, no mental retardation [suspected of Silver-Russell syndrome] q11.23   RPCI-1-267N24   12210300   mother had same translocation; maternal heterodisomy 7; molecular data is unpublished and not consistent with karyotype Edit
137 7810568 46, XX, ins(7;14)(7pter-> 7q11.23::14q32.2-> 14q22::7q21.2-> 7qter), ins(14;7)(14pter-> 14q22::7q11.23-> 7q21.2::14q32.2-> 14qter) mat five miscarriages in the first trimester of pregnancy over 9 years q11.23 q21.2     7810568 proposita two previous brothers died soon after birth; mother had same balanced insertional translocation Edit
138 MCN_19880001-035_1 46, XX, t(7;13)(q11.23;q14.3), inv(7)(q11.23q21.1) de novo ptosis, epicanthus inversus, abnormal ear shape/structure, other eye globe abnormalities, low set ears, short stature - postnatal q11.23       MCN ID: 19880001-035 www.mcndb.org Edit
139 MCN_19880001-035_2 46, XX, t(7;13)(q11.23;q14.3), inv(7)(q11.23q21.1) de novo ptosis, epicanthus inversus, abnormal ear shape/structure, other eye globe abnormalities, low set ears, short stature - postnatal q11.23 q21.1     MCN ID: 19880001-035 www.mcndb.org Edit
140 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
141 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
142 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
143 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
144 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
145 17075606 46, XX [dup(7)(q11.23q11.23) de novo detected by array CGH] psychomotor development delay, mild to moderate mental retardation, severe speech dyspraxia, short stature, right cubitus valgus, club feet, hip dysplasia, round face with stocky & short neck, low-set posteriorly rotated ears, short philtrum, thin lips q11.23 q11.23 Williams_Duplicon_1 Williams_Duplicon_2 17075606     Edit
146 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
147 18266245; Merritt_ACMG2007 46,XY.arr (7q11.23)x3 mat bilateral congenital glaucoma, positional brachycephaly, motor and speech delay, poor social interaction, hypotonia, extreme shyness, eczema, prominent broad forehead, deeply-set eyes, high broad nasal bridge, thin nose, short nasal tip, low ears, irregular helices with cupping, small mouth, thin vermilion of the lips, retrognathia q11.23 q11.23 CTD-2069P19 RP11-926D5   duplication ~ 1.4Mb-3.3 Mb in size; maternal family history consistent with speech difficulties in his mother, uncle, and cousin; as child, mother had poor social interaction, delayed motor skills, extreme shyness; similar facial features as patient seen in mother and her maternal half-sister; cousin with history of heart problems; maternal grandmother and great-grandmother both developed glaucoma in their later years; ACMG 2007, Program #25 Edit
148 20186810_4 46,XY,rec(7)dup(7q)inv(7)(p22.3q11.22).ish rec(7)(pVYS231A+,D7S486/D 7S522+,ELN/LIMK1/D 7S613+;pVYS230A-,ELN/LIMK1/D 7S613+,D7S486/D7S522+,p VYS231A+).arr 7p22.3(52,899–1,948,072)x1,7 q11.22q11.23(71,760,154-–76,1 08,223)x3,7q11.23q36.3(76,434,8 28–158,801,1 52)x3 mat stillborn, growth retardation, micrognathia, ventricular septal defect, aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, cerebellar hypoplasia, receding chin, flattened nasal bridge, low set abnormally folded ears q11.23 q36.3     20186810   mother's karyotype: 46,XX,inv(7)(p22q11.2).ish inv(7) Edit
149 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
150 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32     458833, 7228036, 6758992, 7154049, 3879441, 2301476, 11045577 case 1 [458833], case 11 [6758992], ref. 4 [7154049], ref. F [ 2301476]   Edit
151 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
152 7449183_1 46, XX, t(X;3;7;21)(Xpter-> q27::3p11-> pter; 3p11-> q12::7q21-> qter; 7pter-> p12::q21-> 3q12-> qter; Xq28::21q21-> p12::q21->qter) de novo mental retardation, brachycephalic, flat facies, low-set incompletely outfolded ears, depressed nasal bridge, shortened uvula, four toes on the right foot, severe psychomotor delay, mild generalized hypotonia q21       7449183 GD, MCN ID: 19800001-999 www.mcndb.org Edit
153 2693190 46, XY, der(17)t(7;17)(q21;25) pat small nose, micro/retrognathia, low-set & malformed ears, short neck, cerebral malformation (large ventricles) q21       2693190, 11536263   trisomy of 7q21-qter; father had balanced t(7;17) Edit
154 797303 46, XX, del(7)(q21q31) de novo low birth weight, microcephaly, low-set pointed ears, arrhinencephaly, hypoplastic brain (L), hypoplasia of islets of Langerhans (leprechaunism), died at 2nd month q21 q31     797303, 631854, 537019, 7228036, 7228036, 6758992, 7154049, 2301476, 11045577 ref. 2 [7154049], case 15 [537019], case 8 [6758992], ref. B [2301476]   Edit
155 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
156 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
157 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
158 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
159 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
160 9718347_SV 46, XY, der(9)t(7;9)(q21.1;p24) mat small & beaked nose, micrognathia, low-set, posteriorly rotated ears, widely separated and continuous anterior and posterior fontanelles, long fingers and toes, scoliosis, joint contractures, sacral dimple, complex congenital heart disease including patent ductus arteriosis, ventricular septal defect, atrial septal defect and hypoplastic aortic arch, ambiguous genitalia, rudimentary uterus q21.1       9718347, 11536263 SV trisomy of 7q21.2-qter; first reported in Begleiter et al., 1995, Am Hum Genet 57: A107 Edit
161 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
162 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
163 17230488_2 46, XX, t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3) de novo psychomotor developmental delay, complete deafness, growth retardation, low-set ears, slight facial asymmetry, severe mental retardation, microcephaly q21.1 q21.3 D7S2791/ D7S1934 D7S1583/ D7S2009 17230488, 18565486 case 27 [18565486] ~16 Mb deletion detected by microarray Edit
164 17163539_1 46, XY, dup(7)(q21.1q31.3) [90]/ 46, XY, del(7)(q21.1q31.3) [10] [lymphocytes; after birth]
46, XY, dup(7)(q21.1q31.3) de novo [100] [lymphocytes & epithelial cells;12 months of age]
psychomotor retardation, hypotonia, asymmetric skull with triangular face, frontal bossing, flat and asymmetric occiput, short neck, epicanthic folds, strabismus, low-set ears q21.1 q31.3 RP11-388L11/ RP11-791J18 RP11-105B19/ RP11-447A2 17163539     Edit
165 17163539_2 46, XY, dup(7)(q21.1q31.3) [90]/ 46, XY, del(7)(q21.1q31.3) [10] [lymphocytes; after birth]
46, XY, dup(7)(q21.1q31.3) de novo [100] [lymphocytes & epithelial cells;12 months of age]
psychomotor retardation, hypotonia, asymmetric skull with triangular face, frontal bossing, flat and asymmetric occiput, short neck, epicanthic folds, strabismus, low-set ears q21.1 q31.3     17163539     Edit
166 14550969 46, XY,del(7)(q11.2q22) unilateral split hand (left), bilateral split foot, hearing loss, developmental delay, hypotonia, low set ears, loss of Crura anthelicis, stenosis of external ear canals, microgenia, hypoplasia of tongue, mild laryngomalacia q21.1 q22.1 D7S669/D7S644 D7S518/D7S796 14550969, 18651096 Patient 4 [18651096]   Edit
167 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
168 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
169 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
170 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
171 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
172 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
173 19401716_1 46,XX,del(7)(q21.13q22.1)de novo.arr 7q21.13q22.1(89,870,000-98,520,0 00)x1 intra-uterinegrowth retardation, split hand/foot malformation, frontal bossing, micrognathia, small dysplastic ears, long philtrum, congenital deafness due to aplasia of the cochlear nerves q21.13 q22.1     19401716 Patient 1 ~8.66Mb deletion, DLX5, DLX6 and DSS1 genes deleted Edit
174 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
175 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
176 8135275 46, XX, inv(7)(q21.2q31.2) mat cardio-facio-cutaneous (CFC) syndrome: characteristic facial appearance with high forehead, bitemporal narrowing, hypoplastic supraorbital ridges, downslanting palpebral fissures, ptosis, depressed nasal bridge, posteriorly angulated ears with thick helices), ectodermal dysplasia, slow growth, congenital heart disease q21.2 q31.2     8135275 M.M. [8135275], MCN ID:19930009-999 unaffected mother and maternal grandmother carried same inversion; www.mcndb.org Edit
177 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
178 11113903_2 46, XY, der(13)t(7;13)(q21.2;p12) mat bilateral ventriculomegaly, horizontal palpebral fissures, low-set ears, Pierre Robin's sequence, large neck, simian crease on the right hand, corpus callosum agenesis and vermis hypoplasia, only 11 rib pairs q21.2       11113903 fetus in the 6th pregnancy (second case) trisomy of 7q21.3-qter; mother had balanced t(7;13) Edit
179 8986281_1 46, XX, der(7)(pter>q36::q36>q21.2:) de novo hydrocephalus, depressed nasal bridge, low-set ears, microretrognathia, short neck, enlarged lateral ventricles q21.2 q36     8986281, 11113903     Edit
180 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
181 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
182 15121782 46, XY, 9qh- [del(7q) de novo] ectrodactyly of the left hand and both feet with typical lobster claw, syndactyly of III & IV fingers of the right hand, dysplastic ears, retrognathia, profound deafness, Mondini dysplasia q21.3 q21.3 - 22.1 DNCI1/ D7S821 DLX5/ D7S618 15121782 index patient microdeletion of 0.9 - 1.8 Mb; DSS1, DLX6, DLX5 were deleted Edit
183 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
184 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
185 DGAP118 46, XX, inv(7)(q21.3q35) mat micrognathia, abnormal pinnae (overfolded helices, small size), bilateral conductive hearing loss, menarche at age 10 years, bedwetting, mild kyphosis, developmental delay, right accessory lateral incisor q21.3 q35     DGAP118 (daughter) daughter of DGAP118, sibling of DGAP117 and DGAP119; http://www.bwhpathology.org/d gap/ Edit
186 1877619_T2_1 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development q21.3 (T2.1) q21.3 (T2.2) GS1-310A5 stSG48566/ RH36420 1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment T2.1 - T2.2 translocated onto der(9); two breakpoints(T2.1 & T2.2) located within the smallest region of overlap (SRO) and a third (T2.3) distal to the SRO for SHFD1; www.mcndb.org Edit
187 1877619_T2_2 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development, ectrodactyly q21.3 (T2.2) q22.1 (T2.3) stSG48566/ RH36420   1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment of T2.2 - T2.3 translocated onto der(9); two breakpoints(T2.1 & T2.2) located within the smallest region of overlap (SRO) and a third (T2.3) distal to the SRO for SHFD1; www.mcndb.org Edit
188 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
189 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
190 18255367_2 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development q21.3 q22 RP11-737N20   18255367 proband   Edit
191 24167464 46,XX.arr 7q21.3q31.1(96,742,140-109,246,0 85)×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
192 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
193 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
194 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
195 Kadotani_1985 46, XX, dup(7)(q22->qter) de novo hypotonia, psychomotor retardation, high forehead, epicanthic folds, micro/retrognathia, low-set & malformed ears, short neck, cerebral malformations (large ventricles), congenital heart defect q22 qter     11536263   Kadotani et al., 1985, Proc Jpn Acad 61(B): 131-133 Edit
196 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
197 23112752_3 46,XY,t(7; 10)(q22;q26).arr 2q24.2q24.3(161,919,306–166,0 11,752)x1 de novo autistic-like features, developmental delay, hypotonia, short palpebral fissures, intermittent esotropia, slight bilateral epicanthal folds, low-set ears, slightly tapered fingers, overall small size q22       23112752 Patient 3   Edit
198 1877619_T2_3 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development, ectrodactyly q22.1 (T2.3) q31.3 (T2.4)     1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment of T2.2 - T2.3 translocated onto der(9) (inverted); two breakpoints(T2.1 & T2.2) located within and a third (T2.3) distal to the smallest region of overlap (SRO) for SHFD1; www.mcndb.org Edit
199 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
200 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
201 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
202 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
203 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
204 4757516_CH 46, XX, der(21)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis q31       4757516, 4438062, 1084120 propositus, C.H. trisomy of 7q31-qter; son of 4757516_father, sibling of 4757516_fetus Edit
205 4757516_fetus 46, XY, der(7)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis q31       4757516, 537019, 7390476, 6758992 fetus [4757516], case 6 [537019], case 11 [7390476], case 14 [6758992] monosomy of 7q31-qter; son of 4757516_father, sibling of 4757516_CH Edit
206 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
207 MCN_19990002-004 46, XX, t(3;7)(q13.3;q31) mat et pat brachydactyly, square face, GH-deficiency, frontal bossing, prognathism, low set ears, short stature - postnatal q31       MCN ID: 19990002-004 www.mcndb.org Edit
208 830447_propositus 46, XX, der(9)t(7;9)(q31;p24) mat dysmorphism, abnormal cranial shape, porminent occiput, frontal bossing, microretrognathia, low-set ears, systolic murmur due to a patent ductus arteriosus, bilateral cerebral ventricular dilatation, bilateral ureteral dilatation, absence of both 12th ribs, pyschomotor retardation q31       830447 propositus CD (IV-7) trisomy of 7q31-qter Edit
209 Adir_ASHG2005 del(7)(q31.1q31.3) de novo suspected of Russell-Silver syndrome: pre-/postnatal growth retardation, sparse hair, small-triangular face, high-wide forehead, low rotated ears, hypoplasia of the mid-phalanges of fingers, clinodactyly of the 5th finger q31.1 q31.3 D7S692/ D7S1817 CFTR/ D7S2487   deletion of paternal origin (12 Mb); Adir et al., ASHG 2005, Program #655 Edit
210 Unpublished_9909 46, XY, t(6;7)(q25.1;q31.2) upper limb reduction, hypospadias, big omphalocele, single kidney q31.2       9909 translocation appears in father and 2 sons, all 3 are affecteds; data unpublished Edit
211 17033973_2 46, XX, del(7)(q31.2q32) de novo developmental delay, developmental verbal dyspraxia, seizures, could not cough until about 6 years of age q31.2 q32 D7S692/ D7S471 D7S1517/ D7S1873 17033973 patient 2, 27162 13-Mb deletion of paternal origin Edit
212 1877619_T2_4 46, XY, t(5;9;7)(5pter-> 5q11.2::5q34-> 5qter; 9pter-> 9q22.1::7q31.3-> 7q22.1::7q21.3-> 7q21.3::5q34-> 5q11.2:: 7q31.3-> 7qter; 7pter-> 7q21.3::9q22.1-> 9qter) de novo bilateral split hand/split foot, mildly dysmorphic, low-set ears, normal cognitive development, ectrodactyly q31.3 (T2.4) qter     1877619, 8023840, 7987313, 7616545, 8733122, 10049579, 12690205 T2 [8023840, 7987313, 8733122], ref. 11 [8782053], MCN ID: 19910013-999 segment of T2.4 - 7qter translocated onto der(9); two breakpoints(T2.1 & T2.2) located within and a third (T2.3) distal to the smallest region of overlap (SRO) for SHFD1; www.mcndb.org Edit
213 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
214 511152 46, XX, del(7)(q32) de novo holoprosencephaly with premaxillary agenesis, microcephaly, flattened occiput, cheilo-gnatho-palato-schisis, mongoloid eye slant, large poorly modulated ears, overlapping third and fifth toes bilaterally, deep furrows on the soles q32 qter     511152, 6758992, 8135290 case 22 [6758992]   Edit
215 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
216 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
217 3055986 46, XY, del(7)(q32) short nose with bullous tip, prominent forehead, large ears with simple helix, slight antimongoloid slant, thin upper lip, broad mouth, micrognathia with prominent fat pad on chin, wide spaced nipples, glandular hypospadia, clubfeet, absence of lower sacral vertebrae q32 qter     3055986, 8135290 DC   Edit
218 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
219 7684659_twin2 46, XY, del(7)(q32) de novo microcephaly, micrognathia, prominent ears with hypoplastic helixes, broad nasal bridge, bulbous nasal tip, hypospadias q32 qter     7684659, 8135290 twin 2 monozygotic twin 1 mosaic for deletion in lymphobalsts (70%), normal in fibroblasts and no phenotype; twin 2 mosaic in lymphoblasts (70%), deleted in fibroblasts (100%); first reported in Tsukamoto et al. 1992. Jpn J Hum Genet 37: 67 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 500394_proband 46, XY, der(6)ins(6;7)(q21;q32qter) ins(6;20)(q27;p11pter) mat hypotonic, macrocephaly, antimongoloid slanting eyes, light ptosis, low nasal bridge, low-set ears, moderate micrognathia, short neck, membranous anal atresia, one-sided hearing defect q32 qter     500394 proband trisomy of 7q32-qter Edit
222 1928105_7 46, XY, t(7;22)(q32;q11) de novo spondylocostal dysplasia, died at 2 years of age q32       1928105 7th case in Table 3   Edit
223 Thompson_ASHG1974 46, XX, t(7;18)(q32;q23) pat disproportionally large head, low-set ears, small for gestational age q32       fetus father, paternal uncle and grandmother have same translocation and are all phenotypically normal; mother has family history of D/G translocation; Thompson & Palmer, abstract, Am J Hum Genet 26:87A, 1974 Edit
224 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
225 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
226 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
227 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
228 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
229 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
230 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
231 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
232 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
233 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
234 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
235 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
236 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
237 7130958 46, XX, del(7)(q33q35) de novo severe mental retardation, growth retardation, microcephaly, facial dysmorphism with prominent forehead, large retroverted ears, mongoloid slant of eyes, bulbous nose with broad prominent base, smooth philtrum, large downturned mouth with thick lips, clitoromegaly, hypoplastic labia minora q33 q35     7130958, 3839444 case 3 [3839444]   Edit
238 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
239 17230488_1 46, XX, t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3) de novo psychomotor developmental delay, complete deafness, growth retardation, low-set ears, slight facial asymmetry q33   RP11-10I12/ RP11-116J14   17230488     Edit
240 18564498 46,XY,der(7)dup(7)(q?)der(9))del(9)(p?)t(7;9)(q33;p23)pat West syndrome, severe psychomotor retardation, prominent metopic suture, epicanthal folds, strabismus, low-set ears, microretrognathia, large anterior fontanel, bilateral simian creases, muscular hypotonia, hypsarrythmia, myelinisation delay q33       18564498   26Mb terminal 7q duplication detected by FISH Edit
241 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
242 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
243 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
244 6831934 46, XY, del(7)(q34) de novo mental retardation, stenosis of the anus, microcephaly, bulbous nose, large ears, coloboma of the retina, absence of the lower two segments of the sacrum, mild hypospadia q34 qter     6831934, 3055986, 8135290     Edit
245 3409538_4 46, XY, der(18)t(7;18)(q34;p11) mat downslanting eyes, large malformed ears, congenital heart defects, bilateral hypoplastic nails of II and v fingers q34       3409538, 10951456 case 4 (Rome) trisomy of 7q34-qter; mother had balanced t(7;18) Edit
246 MCN_19960002-128 46, XX, t(7;8)(q34;q24.2) de novo webbed neck/excess skin/cystic hygroma, Low set ears, micrognathia/a gnathia total/retrognathia, down-slanting palpebral fissures q34       MCN ID: 19960002-128 www.mcndb.org Edit
247 12868476_1 46, XX, der(13)t(7;13)(q34;q34). ish der(13)t(7;13)(D13S1152/D 13S261+, D7S550+) mat wide-open fontanelles, frontal bossing, small palpebral fissures, epicanthic folds, small nose, depressed nasal bridge, malformed/low set ears, short neck, palatal anomaly, cerebral malformations, profound hypotonia, arthrogryposis, club feet q34   D7S500/ D7S550   12868476 patient 1 trisomy of 7q35-qter; child of 12868476_mother Edit
248 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
249 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
250 Krger_ESHG2004_2_proband 46, XY, del(7)(q34q36.1). ish 7(wcp7x2), 10(wcp7-2x) tetralogy of Fallot, long philtrum, retro-/micrognathia, low-set slightly posteriorly rotated ears, short neck q34 q36.1     case 2 Krger et al., ESHG 2004, P0041: mother had balanced ins(10;7) Edit
251 Baumann_1980 46, XY, der(7)t(1;7)(q44;q34) mat growth retardation, psychomotor developmental delay, microcephaly, prominent head, short nose with bulbous tip, large dysplastic ears, hydronephrosis, bladder dysfunction, rectal dysfunction, hypospadias q34       3055986, 8135290   monosomy of 7q34-qter; Baumann et al., 1980, Klinische Genetik in der Padiatrie, 2nd Symposium, pp209-213 Edit
252 10439047_M159 t(7;10)(q32-34;q11) papillary thyroid carcinoma, exposed to radioactive fallout after the Chernobyl reactor accident at age of 2 years and 7 months q34   TIF1   10439047 M159 TIF1 fused to RET (10q11); Mitelman Database, Reference No. 9697 Edit
253 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
254 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
255 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
256 19838731_1 46 XX.arr 7q34q35(138,293,371–148,443,9 94)x3 de novo,7q36 (148,472,027–157,265,9 94)x1 de novo Currarino syndrome, pre- and post-natal growth impairment, microcephaly, hypoplastic inferior vermis, sensorineural deafness, sloping forehead, low-set hair, large ears, palpebral ptosis, hypotelorism, epicanthal folds, hypoplasic eyebrows, depressed nasal root, prominent maxilla, microretrognathia,t wo large maxillary central incisors, small hands, short thumbs, partial syndactyly of toes, hypotonia q34 q35     19838731 proband ~10.3Mb duplication; father has asymptomatic total posterior sacral canal schisis; proband’s sister has asymptomatic partial schisis of the sacrum canal Edit
257 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
258 738736 46, XX, del(7)(q35) de novo growth and developmental delay, frontal bossing, microcephaly, deep-set eyes, bulbuous tip of the nose, large ears q35 qter     738736, 6758992, 8135290 AC07 1975 [738736], case 30 [6758992]   Edit
259 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
260 Unpublished_27 46, XX, del(7)(q35) epicanthal fold and deep crease, forehead is somewhat prominent, micrognathia, large floppy ears q35 qter     27 data unpublished Edit
261 10951456_DV 46, XY, der(2)t(2;7)(q37;q35) mat multiple congenital abnormalities, micropenis, bilateral clubfeet, acute gastroenteritis, abdominal distension, low-set ears q35       10951456, 12017231, 12868476 D.V. (uncle of proposita) trisomy of 7q35-qter; mother and brother had balanced t(2;7); uncle of 10951456_SV Edit
262 10951456_SV 46, XX, der(2)t(2;7)(q37;q35) pat macrocephaly, low-set ears, neurodevelopmental delay, scaphocephaly, sacral dimple q35       10951456, 12017231 S.V. (proposita) trisomy of 7q35-qter; father and paternal grandmother had balanced t(2;7); niece of 10951456_DV Edit
263 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
264 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
265 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
266 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
267 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
268 2624261_II-1 46, XX, der(7)t(7;9)(q36;q34) mat. ish der(7)t(7;9)(D7Z1+, D7S427-, ABL+) holoprosencephaly, hypotelorism, downward slant to palpebral fissures, large nose with bulbous tip, microdolichocephaly, & large ears; low birth weight; growth & developmental delay; moderate to severe mental retardation; abnormal toes q36   LL07NC01-96-well-199b9/ LL07NC01-96-well-190c1   2624261, 1897576, 8485580, 8135290, 9254845 patient II-1 [2624261], 105 [8485580, 9254845], GM13687 (family 1637, affected sister) monosomy of 7q36-qter; daughter of 2624261_I-2; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
269 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
270 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
271 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
272 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
273 8986281_2 46, XX, der(7)(pter>q36::q36>q21.2:) de novo hydrocephalus, depressed nasal bridge, low-set ears, microretrognathia, short neck, enlarged lateral ventricles q36 qter     8986281, 11113903     Edit
274 15844773 46, XY, der(7)t(7;8)(q36;q24.3) de novo pre- & postnatal growth retardation, neonatal feeding problems, developmental & mental retardation with non-verbal communication (at 6 years of age), microcephaly, large ears, narrow palpebral fissures with blepharoptosis, epicanthic folds, large depressed nasal bridge, bulbous nasal tip, right cryptorchidism, delayed bone age on X-rays q36       15844773   monosomy of 7q36-qter Edit
275 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
276 19838731_2 46 XX.arr 7q34q35(138,293,371–148,443,9 94)x3 de novo,7q36 (148,472,027–157,265,9 94)x1 de novo Currarino syndrome, pre- and post-natal growth impairment, microcephaly, hypoplastic inferior vermis, sensorineural deafness, sloping forehead, low-set hair, large ears, palpebral ptosis, hypotelorism, epicanthal folds, hypoplasic eyebrows, depressed nasal root, prominent maxilla, microretrognathia,t wo large maxillary central incisors, small hands, short thumbs, partial syndactyly of toes, hypotonia q36 q36     19838731 proband ~8.8MB deletion containing HLXB9; father has asymptomatic total posterior sacral canal schisis; proband’s sister has asymptomatic partial schisis of the sacrum canal Edit
277 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
278 Soylemez _ACMG2007 45,XY,der(15;22)(q10;q10),a dd(7)(q36).ish t(3;7)(p24;q36) de novo intrauterine growth retardation, mental retardation, premature craniosynostosis, microphthalmia, blepharophimosis, narrow forehead, bitemporal narrowing, large ears, cardiac defects, microcephaly, hypotonia q36         Soylemez et al., ACMG2007, Program #119 Edit
279 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
280 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
281 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
282 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
283 ECACC_93102716 46, XY, t(7;22)(q36.3;q12.2) unilateral coloboma, abnormal ears q36.3       93102716 (cell line: AE0039) www.ecacc.or.uk Edit
284 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
285 24334122_1 46,XY,der(7)t(7;21(q36.3;q22.13)),a rr7q36.3(156,881,580-1,159,118,5 07)x1, 21q22.13q22.3(37,871,7 79)x2 23,788,053 × 3 48,090,258 × 3) [hg19] mild Down syndrome, left eye keratoconus, microcephaly, macroglossia, gothic palatum, maxillary hypoplasia, moderate micrognathia, bulbous nose, prominent earswith auricle abnormalities, low posterior hairline, broad thumbs,clinodactyly, metatarsus adductus and clinodactyly of toes q36.3 q36.3     24334122   ~2.2Mb deletion Edit
286 24334122_2 46,XY,der(7)t(7;21(q36.3;q22.13)),a rr7q36.3(156,881,580-1,159,118,5 07)x1, 21q22.13q22.3(37,871,7 79)x2 23,788,053 × 3 48,090,258 × 3) [hg19] mild Down syndrome, left eye keratoconus, microcephaly, macroglossia, gothic palatum, maxillary hypoplasia, moderate micrognathia, bulbous nose, prominent earswith auricle abnormalities, low posterior hairline, broad thumbs,clinodactyly, metatarsus adductus and clinodactyly of toes q36.3       24334122     Edit
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