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 24311514 4?,XX.arr 7p22.3 (2,194,515–2,319,8 39)x3 [hg19] developmental delay, hypotonia, tetralogy of Fallot, microcephaly, nonverbal p22.3 p22.3     24311514   ~125 kb duplication including FTSJ2 and NUDT1 genes and partially including MAD1L1 and SNX8 genes; discussion of SNX8 as candidate gene Edit
3 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
4 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
5 11746010 46, XX or XY, der(7)t(4;7)(q28;p22) mat or pat mental and developmental retardation, brachycephaly & small head, hypotonia, restricted speech, seizures, dysmorphic features, high arched palate, cryptorchidism (males only) p22       11746010 proband (IV-19), brother of proband (IV-20), cousin of proband (IV-18) monosomry of 7p22-pter; mother of IV-19 & 20 and father of IV-18 had balanced t(4;7) Edit
6 11992485_2 46, XY, dup(7)(?p15.3?p22) mat hypertelorism, constipation, hypotonia, high palate, atrial septal defect, tethered penis p22 p15.3     11992485 patient 2 son of 11992485_1 Edit
7 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
8 ECACC_98112616 46, XX, t(7;12)(p?22;?)/ 46, XX developmental delay, hypotonia p22       98112616 (cell line: BH0109) www.ecacc.or.uk Edit
9 12136233_6 46, XX, der(7)t(7;7)(p22;q36) de novo intrauterine growth retardation, left ventricular hypertrophy with significant septal hypertrophy of the heart, dysplasia of the right hip, significant muscular hypotonia, dysmorphic features, significantly wide-open fontanelle, speech delay, scoliosis, inspiration stridor because of partial tracheomalazia p22 q36     12136233 case 6 monosomy of 7q36-qter and trisomy of 7p22-pter Edit
10 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
11 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
12 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
13 10494083 46, XY, der(21)t(7;21)(p21.2;q22.3) mat mental and physical retardation, larege anterior fontanel, brachycephaly, hypotonia, ocular hypertelorism, high narrow palate, small mandible p21.2       10494083, 12818527 propositus (case 42) trisomy of 7p21.2-pter; mothe had balanced t(7;21) Edit
14 12818527 47, XY, +der(21)t(7;21)(p21;q21.3) mat infantile spasm, repeated upper respiratory tract infection and otitis, constipation, severe feeding problems, psychomotor development retardation, autistic, no speech at 12 y.o., muscular hypotonia, mild facial dysmorphism p21.2   D7S507/ D7S488   12818527   trisomy of 7p21-pter; mother and brother carry balanced t(7;21) Edit
15 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
16 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
17 8488873_1 46, XX, der(9)t(7;9)(p15.3;p24) de novo developmental delay, hypotonia, widely spaced nipples, long fingers and toes, abnormal dermatoglyphics, high arched palate, epicanthic folds, upward slant of palpable fissures p15.3       8488873, 9084937, 10494083 patient 1 (K.H.) [8488873], case 33 [10494083] trisomy of 7p15.3-pter Edit
18 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
19 2260606 46, XX, t(5;7)(q33.1;p15.1) de novo Cohen syndrome (hypotonia, obesity), multiple congenital anomalies, mental retardation, microcephaly, seizures p15.1       2260606 VDHC, MCN ID: 19890001-008 normal sister; www.mcndb.org Edit
20 MCN_19900001-010 46, XY, t(3;7)(q29;p15.1) pat thick lips, facies significantly abnormal, mental retardation, cataract, epicanthus inversus, paresis of ocular muscles/squint, hypotonia p15.1       MCN ID: 19900001-010 www.mcndb.org Edit
21 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
22 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
23 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
24 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
25 Fusco_ASHG2006 t(4;7)(q26;p15) de novo mental retardation, speech delay, hypotonia, unilateral strabismus, horizontal palpebral fissures, open mouth with cupids bow, folded down helix, bilateral cryptorchidism, pulmonic stenosis, syndactyly of 2nd and 3rd toes p15   RP11-954B12     RP11-954B12 is not in our databse; Fusco et al., ASHG 2006 Edit
26 7083611_1 46, XY, der(8)t(7;8)(p13;p23) pat unusual facies, cleft palate, inguinal and umbilical herniae, heart murmur, respiratory problems, mentally and developmentally retarded, severe hypotonia, micrognathia p13       7083611, 2679090, 2692511, 10494083 case 1 (Houston) [7083611], case 6 [2692511], case 13 [10494083] trisomy of 7p13-pter; father had balanced t(7;8) Edit
27 MCN_19970027-224 46, XX, t(1;7)(q31;p13) facies significantly abnormal, mental retardation, depressed nasal bridge, syndactyly of fingers, hypertelorism, umbilical hernia, paresis of ocular muscles/squint, hypotonia p13       MCN ID: 19970027-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
28 MCN_19970129-224 46, XY, t(5;7)(q22;p13) hypotonia p13       MCN ID: 19970129-224 www.mcndb.org Edit
29 MCN_19940002-049 46, XX, t(7;14)(p13;q24.1) scoliosis, mental retardation, shunt VSD/ASD/PDA, hypertelorism, up-slanting palpebral fissures, skin dimples/pits, short/small nose, short stature - postnatal, hypotonia p13       MCN ID: 19940002-049 www.mcndb.org Edit
30 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
31 18252227_SK0152-003 373J21-), del(7)(p15.3p21.1)(RP11-445O1-,R P11- Autism Spectrum Disorder, LOF 31, moderate/severe receptive/expressive language delay, severely unintelligible speech, moderate repetitive behaviour, hypotonia affecting FM & GM development p13       18252227 SK0152-003   Edit
32 19878743_10 46, X?.arr 7p14.1p13(37,663,445-44,521,8 33)x1 de novo severe mental retardation, hypotonia, bifid thumbs, feeding difficulties,b ilateral renal hypoplasia, mega ureter,vesicoureteral reflux, renal insufficiency, cutis laxa, facialdysmorphism, cerebral atrophy p13 p14 RP11-52M17   19878743 P10   Edit
33 15733271_1 46, XY, inv(3)(p24q24), t(5;7)(p15.2;p12.2). ish del(3)(p24.3p24.3)(RP11-255O19-), del(5)(p15.2p15.31)(RP11-79G1-, RP11-91M12-), del(18)(q12q12)(RP11-90B5-) de novo autism, developmental delay, hypotonia, seizures, mild dysmorphism p12.2       15733271 Subject 1 older sister (Subject 2) had autism, but normal karyotype Edit
34 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
35 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
36 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
37 ECACC_95101919 46, XY, t(7;15)(p11;p11) cerebral palsy, IQ of 30, severe atypically hypotonia p11       95101919 (cell line: GK0001) brother of ECACC_95101920, son of ECACC_95101921; www.ecacc.or.uk; data unpublished Edit
38 ECACC_95101920 46, XY, t(7;15)(p11;p11) cerebral palsy, IQ of 45, moderate atypical hypotonia p11       95101920 (cell line: GK0002 ) brother of ECACC_95101919, son of ECACC_95101921; www.ecacc.or.uk Edit
39 NIGMS_GM13732 46, XY, t(7;15)(p11;p11). ish t(7;15)(D7Z1+, D15Z-; D15Z+, D7Z1-) atypical hypotonia cerebral palsy; mental retardation; delayed gross motor skills; loss of language skills at about 1 year of age; IQ is 30; exhibits some signs of autism p11       GM13732 (family 1634, proband) lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
40 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
41 11140412_2 46, XX, der(13)t(7;13)(p11;p11) de novo hypertelorism short upturned nose and flat nasal bridge, dolichocephaly, hypoplastic nipples, hypoplastic scrotum and short penis, dislocated hips, clinodactyly of II-V fingers, large VSD, ASD (type II), valvular pulmonary stenosis, general hypotonia, developmental delay p11       11140412 patient 2 trisomy of 7p11-pter Edit
42 7173858_1 45, XX, dup(7)(p21->pter) de novo, t(14;21)(p11;q11) pat developmental delay, hypotonia, left kidney enlargement with focal gromerulosclerosis and malrotation, thymic enlargement, bilateral calcaneovalgus, no speech pter p21     7173858, 2679090, 2692511, 2363431, 9297445, 10494083, 12818527 case 1 (S.M.) [7173858], case 14 [2692511], case 3 [9297445], case 35 [10494083] father had 45,XY,t(11;21)(p11;q11) (Robertsonian translocation) Edit
43 10594873 47, XY, +7 [28]/46, XY [7] [skin] linear and whorled nevoid hypermelanosis, hypomelanosis of Ito, Dandy-Walker variant, developmental delay, hypotonia, pyschomotor delay, heart defect (PDA & VSD), asymmetric ptosis, short downslanting palpebral fissures, sparse eyelashes pter qter     10594873, 10594874     Edit
44 12955771 48-51, XY, +2-5mar de novo/ 46, XY [r(6) in 68%, r(12) in 24%, r(7) in 18%, r(19) in 14% of cells, r(10)] hypotonia, opisthotonos, broad nasal bridge, large lips, retrognathia, proximally implanted thumbs, total situs inversus, agenesis of corpus callosum pter qter     12955771     Edit
45 Sousa_ESHG2006 der(7)t(7;19)(qtel;qtel) pat mental retardation, hypotonia, growth retardation (prenatal onset), microcephaly, round face with broad forehead, broad nasal bridge, short nose with anteverted nares, short wide philtrum, downturned corners of the mouth, thin lips, abnormal frontal lobes [imagiological], minor congenital heart defects; no sacral defects, anorectal anomalies, or haloprosencephaly qter       two unrelated patients monosomy of 7qtel; Sousa et al., ESHG, 2006, P0272 Edit
46 11715006_2 46, XX. ish der(18)t(7;18)(ptel;qtel) profound mental retardation, severe growth restriction, failure to undergo puberty, behavior problems; microcephaly, cleft palate, bilateral ptosis, hypertelorism, epicanthal folds, wide low nasal bridge, anteverted nares, downturned corners of the mouth, camptodactyly of the fingers, scoliosis, bilateral talipes equinovarus; pulmonary stenosis, wasting of the calf muscles, hypotonia, severe periodontal disease; hypothyroidism at age 15 pter pter     11715006 case 2 trisomy of 7pter; mother had balanced t(7;11) detected by SKY Edit
47 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
48 20041939 mos 47,XY,+7/46,X Y[skin] pigmentary mosaicism, infantile spasms, hypotonia, severe psychomotor delay, severe mental retardation pter qter     20041939     Edit
49 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
50 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
51 537019_2_1 46, XY, t(7;8)(q11;q24) del(7)(q11q21) del(8)(q24), add(15)(p?), 22ps- de novo mental retardation, epilepsy, hypotonia, microcephaly q11 q21     537019, 7116680, 6758992, 2194394, 1456281, 15732063 case 2 [537019], case 7 [6758992], case 6 [2194394], case 9 [1456281]   Edit
52 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
53 458833_2 46, XX, del(7)(q11q22) de novo mental & developmental retardation, growth delay (pre- & post-natal), severely impaired hearing, no speech, brachycephaly, prominent forehead, marked micrognathia, cleft palate, sacral dimple, hypotonia q11 q22     458833, 6758992, 2194394, 1456281, 15732063 case 2 [458833], case 5 [6758992], case 10 [2194394], case 11 [1456281]   Edit
54 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
55 10636739_1 46, XX, del(7)(q11.1q11.23) Williams syndrome, developmental delay, dysmorphic features, macrocephaly, cutaneous haemangioma, hypotonia, thickened aortic valve, severe speech delay q11.1 q11.23 D7S1816/ D7S489_C   10636739     Edit
56 2194394_propositus 46, XY, del(7)(q11.2q22) pat prominent forehead, short nose, anteverted nostrils, ambiguous genitalia, seizures, impaired hearing, otitis media, micrognathia, developmentally delayed, hypotonia q11.2 q22     2194394, 1456281, 15732063 propositus [2194394], case 14 [1456281]   Edit
57 7239519_DL_3 46, XY, dup(7)(q22q34) or ins(7)(q22 or q34q22q11.2) heart murmus, hip dislocation, slight hypotelorism, epicanthus, prominent frontal bones, small nose, large mouth, widely spaced nipples, severe hypotonia, severe psychomotor retardation q11.2 q22     7239519 DL (Figure3a & 3b)   Edit
58 3169748 46, XX, del(7)(q11.21q11.23) de novo Zellweger syndrome, severe muscular hypotonia, prolonged jaundice, hypoxia, high arched palate, systolic murmur, hepatomegaly, colpocephaly, chorioretinal degeneration, respiratory failure q11.21 q11.23     3169748     Edit
59 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
60 Vergult_Genomic Disorders 2010 46, XX,t(7;22)(q11.22;q12.1) developmental delay, hypotonia, feeding problems, failure-to-thrive (too young to evaluate for autism) q11.22   AUTS2     Vergult et al., Genomic Disorders 2010 Edit
61 8511016 46, XY, del(7)(q11.23q22.1) 7q- syndrome; seizure disorder, developmental delay, hypotonia, congenital heart disease q11.23 q22.1     8511016 GM10160 lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository Edit
62 8879652 46, X, der(X)t(X;7)(q13- 13.2;q11.23-21.11) de novo macrocephaly, axial hypotonia, lower limb hypertonia, hyperactive reflexes, high arched palate, scoliosis q11.23 - 21.11       8879652   trisomy of q11.23 or q21.11-qter Edit
63 14679581_2 46, XY, der(4)t(4;7)(4pter-> 4q12::7q11.23-> 7qter), der(7)t(4;7;14)(7pter-> 7q11.23::4q12-> 4q21.3::14q24.1-> 14qter), der(14)t(4;14)(14pter-> 14q24.1::4q21.3-> 4qter) microcephaly, generalized hypotonia, preaxial polydactyly of the right thumb, non-functional and hypoplastic right thumb, single palmar crease in the left hand, partial cutaneous syndactyly of the second and third toes q11.23   RP11-261L16/ RP11-129J21   14679581 patient 2   Edit
64 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
65 10636739_2 46, XX, del(7)(q11.1q11.23) Williams syndrome, developmental delay, dysmorphic features, macrocephaly, cutaneous haemangioma, hypotonia, thickened aortic valve, severe speech delay, petit mal seizures, severe mental retardation, minimal speech q11.23 q21.11     10636739, 18565486 case 19 [18565486] >9 Mb deletion containing MAGI2 gene detected by microsatellite markers Edit
66 18565486_13 del(7)(q11.23q21.11) [detected by qPCR] Williams syndrome, infantile spasms, hypotonia, severe psychomotor delay, non-verbal, Wolff-Parkinson-White syndrome q11.23 q21.11     18565486 13 ~11-12.5 Mb deletion disrupting MAGI2 gene Edit
67 18565486_18 del(7)(q11.23q21.11) [detected by microarray] Williams syndrome, EEG abnormalities, severe psychomotor delay, marked hypotonia q11.23 q21.11     18565486 18 ~19.6 Mb deletion containing MAGI2 gene Edit
68 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
69 Fryns_1978 46, XX, der(18)t(7;18)(q21;q22) de novo [63]/ 46, XX [54] pyschomotor retardation, hypotonia, facial dysmorphia q21       JD trisomy of 7q21-qter; reported in Fryns et al., 1978, Ann Genet, 2:106-108 Edit
70 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
71 537019_2_2 46, XY, t(7;8)(q11;q24)del(7)(q11q21)del(8)(q24), add(15)(p?), 22ps- de novo mental retardation, epilepsy, hypotonia, microcephaly q21       537019, 7116680, 6758992, 2194394, 1456281, 15732063 case 2 [537019], case 7 [6758992], case 6 [2194394], case 9 [1456281]   Edit
72 3409538_1 46, XX, der(5)t(5;7)(p14;q21) mat macrocephaly, hypertelorism, microretrognathia, severe hypotonia, cerebral malformations, many dysmorphic features, died at 38 hours after birth q21       3409538, 11113903, 11536263 case 1 (Modena) trisomy of 7q21-qter; mother had balanced t(5;7) Edit
73 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
74 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
75 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
76 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
77 Clark_ACMG2007_2 46,XY,t(7;11)(q21.1;p14)de novo.arr (5p15.2)x1,( 7q21.1)x1 mild hypercalcemia, gastroesophageal reflux, constipation, feeding difficulties, bicuspid pulmonary valve, supravalvar pulmonic stenosis, hypotonia, developmental delay, microcephaly,b ifrontal narrowing, puffiness of upper eyelids, stellate iris pattern,downslanting palpebral fissures, small nose with bulbous tip, wide mouth with tented upper lip, mildmicrognathia, simplified ear helices, sacral dimple, anterior placed anus, small phallus, hypoplasia of the thenareminences with adducted thumbs, small feet q21.1         Clark et al., ACMG2007, Program #175 Edit
78 14679581_3_1 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32->7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q21.11 q21.11 RP-4-802A/ RP5-897G10 RP4-649P17/ RP11-727N2 14679581, 16470734 patient 3   Edit
79 14679581_3_2 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32-> 7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q21.11   RP5-897G10/ RP4-649P17   14679581, 16470734 patient 3   Edit
80 20082467_1 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q21.11 q21.3 rs12540580/r s7384064 rs17166393/r s6465422 20082467 index patient   Edit
81 9350823_son 46, XY, der(22)ins(22;7)(q13.3;q21.2q22.1) mat high arched palate, hypotonia, global developmental delay, micrognathia, undescended testes q21.2 q22.1     9350823 son (III-3) trisomy of 7q21.2-q22.1 Edit
82 DGAP_139 46, XY, t(7;13)(p15.3;q14.1) developmental delay, hypotonia, dolichocephaly, frontal upsweep, synophrys, long, straight eyelashes, small nares, pronounced philtral creases, small mouth, flat hemangiomas on back of neck, some pectus excavatum (may be paternally inherited), joint hyperextensibility, feet have increased secondary creases on both soles, hands demonstrate a left palmar crease and a right Sydney line q21.2       139 http://www.bwhpathology.org/d gap/ Edit
83 11531975 46, XX, inv dup(7)(q21.3q35) de novo short stature, psychomotor retardation, muscular hypotonia, seizures, dysmorphic features, congenital heart defect, high arched cleft palate, micrognathia, strabismus q21.3 q35     11531975     Edit
84 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
85 20082467_3 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q21.3       20082467 index patient   Edit
86 Dennis_1977 46, XY, del(7)(q22q32) de novo developmental retardation, hypotonia, passive, bilateral congenital glaucoma, posterior cleft palate, systolic murmur (ASD), cryptochidism q22 q32     2301476, 11045577 ref. D [2301476] Dennis et al., 1977, Am J Hum Genet, 29:37A Edit
87 3409538_3 46, XX, der(1)t(1;7)(q44;q22) mat severe psychomotor retardation, hypotonia (upper arms) macrocephaly, hypertelorism, microretrognathia, kyphoscoliosis, skeletal anomalies, hip dislocation, many dysmorphic features, died at 7 months of age q22       3409538, 11536263 case 3 (Rome) trisomy of 7q22-qter; mother had balanced t(1;7) Edit
88 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
89 7239519_DL_1 46, XY, dup(7)(q22q34) or ins(7)(q22 or q34q22q11.2) heart murmus, hip dislocation, slight hypotelorism, epicanthus, prominent frontal bones, small nose, large mouth, widely spaced nipples, severe hypotonia, severe psychomotor retardation q22 q34     7239519 DL (Figure 3c)   Edit
90 MCN_19980007-047 46, XY, t(1;7)(q42.1;q22) de novo hypotonia q22       MCN ID: 19980007-047 www.mcndb.org Edit
91 MCN_19860001-311 46, XX, t(6;7)(p25;q22) mat hydrocephalus/d ilated cerebral ventricles, anteverted nostrils, paresis of ocular muscles/squint, oederma/lymphoedema, telangiectasia - naevus flammeus, hypotonia q22       MCN ID: 19860001-311 www.mcndb.org Edit
92 7239519_DL_2 46, XY, dup(7)(q22q34) or ins(7)(q22 or q34q22q11.2) heart murmus, hip dislocation, slight hypotelorism, epicanthus, prominent frontal bones, small nose, large mouth, widely spaced nipples, severe hypotonia, severe psychomotor retardation q22 q34     7239519 DL (Figure 3a & 3b)   Edit
93 4438062_proposant 46, XY, t(5;7;17)(q31;q22q31;p13) [inferred: der(5)(5pter-> 5q31:), der(17)(17qter->17p13::7q22-> 7q31 or 7q31-> 7q22::5q31-> 5qter)] hypotonia, psychomotor retardation, frontal and parietal bossing, hypertelorism, epicanthus, convergent strabismus, gross tongue, prognathism, strabismus q22 q31     4438062, 7390476 proposant, G.F. [4438062], case 6 [7390476] trisomy of 7q22-q31 Edit
94 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
95 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
96 Unpublished_13462 46, XX, del(7)(q22.1q31.2) de novo severe motor and cognitive delays, low birth weight (normal growth after birth), microcephaly, no dysrmophic features, hypotonia, overlapping toes in the left foot q22.1 q31.2 D7S2456/ D7S799 D7S2513/ D7S661 13462 data unpublished Edit
97 Brodie_2005 46, XX, del(7)(q22.2q31) de novo developmental delay, speech-language disorder, growth delay, microcephaly, hypertelorism, down-slanting narrow palpebral fissures, flat nasal bridge, cardiac malformation (patent foramen ovale, ductus arteriosus, peripheral pulmonic stenosis), hypotonia, severe bilateral arachnodactyly and clinodactyly of II, IV, V q22.2 q31       reported at Annual Clinical Genetics Meeting, 2005 (#137) Edit
98 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
99 17033973_21 46, XX, del(7)(q31q33?) de novo intrauterin & postnatal growth retadation, developmental delay, hypotonia, no speech, mild dysmorphic features, intermittent esotropia, 5th toes overlapping 4th toes q31 q33 AC002487/ RP11-90N13 D7S640/ RP11-79E7 17033973 patient 21, 11912 deletion of paternal origin Edit
100 12818530 46, XY, dup(7)(q31.1q35) de novo mild facial dysmorphism, moderate developmental retardation, speech delay, hypotonia, heart defect (ASD, VSD) q31.1 q35     12818530     Edit
101 14679581_3_3 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32-> 7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q31.1   RP11-10D8/ RP11-91F7   14679581, 16470734 patient 3   Edit
102 ECACC_98040607 46, XX, del(7)(q31.2q32.2) speech delay, developmental delay, mild global hypotonia, numerous food allergies and mineral deficiencies, ADHD q31.2 q31.2 RP11-563O5 RPCI-11-297O10/ RPCI-11-80N8 98040607 (cell line: KW0001); 10203 14-Mb deletion of paternal origin; proximal breakpoint lies within intron 5 of FOXP2; www.ecacc.or.uk Edit
103 3265313 46, XY, del(7)(q31.2q32.3) de novo facial dysmorphy, psychomotor retardation, absence of language, hypotonia q31.2 q32.3     3265313     Edit
104 Spaetgens_ASHG2005 46, XX, del(7)(q31.3q32) de novo expressive language delay, congenital hypothyroidism, congenital heart defect (ASD), bilateral sensorineural hearing loss, hypotonia, mild dysmorphism, hyperactivity & aggressiveness q31.3 q32       Spaetgens et al., ASHG 2005, Program #825 Edit
105 20082467_2 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q31.31 q35 RP5-1047E14 RP4-545C24 20082467 index patient   Edit
106 6604481_Rudiger 46, XY, der(9)t(7;9)(q32;p24) mat mental and statomotoric retardation, muscular hypotonia, growth delay, dysmorphic features, hypoplastic external genitalia, cerebral convulsions q32       6604481 Rudiger K. (III-5) trisomy of 7q32-qter; sigling of 6604481_Sabine Edit
107 6604481_Sabine 46, XX, der(9)t(7;9)(q32;p24) mat mental and statomotoric retardation, bilateral epicantic folds, congenital total dislocation of the hips, muscular hypotonia, autoagressive behaviour, cerebral convulsions q32       6604481 Sabine K. (III-4) trisomy of 7q32-qter; sigling of 6604481_Rudiger Edit
108 7166316 46, XX, der(3)t(3;7)(p27;q32) pat psychomotor retardation, neurological illness with craniofacial dysmorphia, hypertelorism, hypotonia, kryphoscoliosis q32       7166316 proband trisomy of 7q32-qter; father had balanced t(3;7) Edit
109 DGAP044_1 4?, X?, complex rearrangement- 7q32, 7q35, 2p12, 2q31 severe developmental delay, marked hypotonia, microbrachycephaly, mild dysmorphic features q32       DGAP044 http://www.bwhpathology.org/d gap/ Edit
110 10766986_brother 46, XY, der(14)ins(14;7)(q13;q32q34) mat mental and growth retardation, seizures disorder, generalized muscular hypotonia, kyphoscoliosis, minor anomalies, prominent midface, rigid gait q32 q34     10766986 brother of propositus trisomy of 7q32-q34; brother of 10766986_propositus Edit
111 MCN_19890001-135 46, XY, t(2;7)(q21;q32) spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, hypotonia q32       MCN ID: 19890001-135 www.mcndb.org Edit
112 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
113 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
114 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
115 1084120 46, XX, der(18)t(7;18)(q33;p11.3) mat psychomotor retardation, hypotonia, normal growth, facial asymmetry with palpebral fissures slanted downwards and outwards, deep-set eyes, divergent strabismus q33       1084120, 7390476 proposant [1084120], case14 [7390476] trisomy of 7q33-qter; mother had balanced t(7;18) Edit
116 15834588_1 46, XX, t(7;10)(q33;q23) de novo [microdeletion del(7)(q34q35) detected by FISH] Rett syndromeCowden syndrome; developmental delay, macrocephaly, kyphoscoliosis; hypotonia, feeding problems, recurrent infections, speech delay, frontal bossing, large eyes with downslanting palpebral fissures, slight pectus q33   RP11-209G24   15834588   same case as 15834588_2; translocation breakpoint lies in intron 11 of SEC8LI Edit
117 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
118 3342549_2 46, XY, t(3;7)(q27;q35)del(7)(q34q36) de novo severe hypotonia, microbrachycephaly, congenital anomalies, seizures, growth retardation, hearing deficit, psychomotor retardation, severe mental retardation q34 q36     3342549 P.B.   Edit
119 891262 46, XX, der(4)t(4;7)(p16;q34) mat severe hypotonia, club feet, cardiac abnormalities q34       891262 GM-1220 (GM01220: family 136, proband) trisomy of 7q34-qter; normal mother had balanced t(4;7) (GM00773); fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
120 1456298 46, XY, t(7;16)(q34;p13.3) de novo Rubinstein-Taybi syndrome - facial anomalies, broad thumbs and great toes, mental retardation; developmental delay; hypotonia; narrow forehead and microcephaly; undescended testes q34       1456298, 8430691 J.K.M.; MCN ID: 19920006-047 www.mcndb.org Edit
121 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
122 2319577_3 46, XX, -17, +rec(17), dup(7)(q34->qter), dir ins (7;17)(q34;q23.1q25.3) mat hypotonia, hypertelorism, strabismus of the left eye, severely mentally retarded, dysmorphic features q34       2319577, 10951456, 11531925, 12407716 case 3 (IV-30) trisomy of 7q34-qter; cousin of 2319577_2; mother (III-24) and grandmother (II-7) had ins(7;17)(q3;q23.1q25.3) Edit
123 2241085_1 46, XX, der(7)t(7;22)(q34;q13.3) pat dysmorphic features, systolic heart murmur (VSD), sacral hair tuft and two small sacral dimples, vestigial sacral tail, long finders, single transverse palmar crease, hypotonia, recurrent respiratory infections q34       2241085, 8135290 case 1 [2241085] monosomy of q34-qter; father had balanced t(7;22) Edit
124 15834588_2 46, XX, t(7;10)(q33;q23) de novo [microdeletion del(7)(q34q35) detected by FISH] Rett syndromeCowden syndrome; developmental delay, macrocephaly, kyphoscoliosis; hypotonia, feeding problems, recurrent infections, speech delay, frontal bossing, large eyes with downslanting palpebral fissures, slight pectus q34 q35 PTN TPK1$ 15834588   same case as 15834588_1; 7 Mb deletion: proximal breakpoint was mapped between exon 1 and exon 5 of PIN gene, and distal breakpoint lies within intron 8 of TPK1 gene Edit
125 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
126 8862625_B 46, XY, t(3;8)(3qter-> 3p13::8q21.3-> 8qter; 8pter-> 8q21.3::3p13-> 3pter), t(6;18;6;7)(6pter-> 6p11.2::18q21-> 18pter; 18qter-> 18q21::6p11.2->6q25::7q34-> 7qter; 7pter-> 7q34::6q25-> 6qter) de novo [amniocentesis at 14.9 wks] prominent nasal root, metopic ridge, scoliosis, barrel chest, hypotonia, Hirschsprung disease, growth & psychomotor delay q34       8862625, 16470734 patient B   Edit
127 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
128 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
129 3342549_1 46, XY, t(3;7)(q27;q35)del(7)(q34q36) de novo severe hypotonia, microbrachycephaly, congenital anomalies, seizures, growth retardation, hearing deficit, psychomotor retardation, severe mental retardation q35       3342549 P.B.   Edit
130 DGAP044_2 4?, X?, complex rearrangement- 7q32, 7q35, 2p12, 2q31 severe developmental delay, marked hypotonia, microbrachycephaly, mild dysmorphic features q35       DGAP044 http://www.bwhpathology.org/d gap/ Edit
131 1176136 46, XY, der(7)t(7;10)(q35;p14) pat severe mental retardation, small stature, hypotonia, retarded bone age, high and bulky forehead q35       1176136, 8135290   monosomy of 7q35-qter; father had balanced t(7;10) Edit
132 12205123_2 46, XY, der(2)t(2;7)(q37;q36) pat general muscular hypotonia, microcephaly, severe psychomotor delay, seizures, motor and cognitive retardation, dysmorphic facial features, abnormal pattern palmar dermatoglyphics, inguinal and umbilical hernias, arched eyebrows, pectus carrinatum q36       12205123, 15039644 case 2 (III-2)[12205123], family 3 [15039644] trisomy of 7q36-qter; father had balanced t(2;7); breakpoint at 7q36 is located at 11.4 - 11.8 Mb from 7qter [by FISH]; no family history of MR Edit
133 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
134 10568569 46, XX, der(7)t(2;7)(q37;q36) pat severe mental retardation, microcephaly, hypotonia, hypertelorism, upslanting palpebral fissures, left microphthalmos, right anopthalmos q36       10568569 index case (2.1) in the 10th family in Figure 1 monosomy of 7q36-qter; unaffected father (1.2) had balanced t(2;7) Edit
135 1928105_5 46, XX, t(2;7)(q31;q36) de novo hypotonia, seizures, strabismus, severe to profound mental retardation at 30 months q36       1928105 5th case in Table 3   Edit
136 MCN_20000005-227 46, XY .rev ish enh(7q36q36) mental retardation, epicanthic folds, microcephaly, cerebral cortex atrophy, vascular structural defect, syndactyly (other than minimal 2nd and 3rd toes), hypotonia q36 q36     MCN ID: 20000005-227 www.mcndb.org Edit
137 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
138 Ben-Shachar_ASHG2005 46, XY, der(3)t(3;7)(p25;q36) multiple congenital anomalies, dysmorphic features, respiratory distress requiring mechanical ventilation, severe hypotonia, absent deep tendon reflexes, lambdoid, coronal & sagittal craniosynostosis (no brain parenchymal abnormalities), diagnosed with spinal muscular atrophy type I (SMA) q36         trisomy of 7q36-qter; trisomy of SHH; Ben-Shachr et al., ASHG 2005, Program #652 Edit
139 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
140 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
141 19133571 46,XX,del(7)(q36)de novo sacral dysgenesis, hypotonia, feeding problems, faiture to thrive, early developmental delay, full scale IQ of 40, down-slanting palpebral fissures, hyperkinesis, tonsillar and adenoid hypertrophy, bilateral ptosis, high arched eyebrows, depressed nasal bridge, small hands and feet, fibrolipoma of filum terminale with tethered cord, hydromyelia, arcuate uterus q36 qter     19133571     Edit
142 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
143 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
144 DGAP045 46, XX, t(2;7)(q37.2;q36.3) redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Son with unbalanced der(2) has same clinical features plus complex congenital heart malformation, post axial polydactyly, hypotonia and global developmental delay q36.3       DGAP045 http://www.bwhpathology.org/d gap/ Edit
145 10457847_son 46, XY, der(2)t(2;7)(q37.2;q36.3) mat Rieger like syndrome, complex congenital heart disease, post axial polydactyly, hypotonia, global developmental delay q36.3       10457847 son [10457847], ECACC No. 97070310 (cell line: DD2932), MCN ID: 19960001-002 trisomy of 7q36.3-qter; son of 10457847_mother; www.ecacc.or.uk; www.mcndb.org Edit
146 MCN_19960001-002 46, XY, der(2)t(2;7)(q37.2;q36.3) high arched eyebrow, syndactyly of fingers, shunt VSD/ASD/PDA, abnormal anterior segment of the eye, abnormal pigmentary skin changes, ridged metopic suture/trigonocephaly, polydactyly - postaxial (ulnar)/type unspecified, abnormally placed pupil/Axenfeld/R ieger anomaly, excessive skin wrinkling, abnormal genitalia; type not specified, hypotonia q36.3       MCN ID: 19960001-002 trisomy of 7q36.3-qter; www.mcndb.org Edit
147 15211664_1 46, XY, del(7)(q36.1). ish del(7)(q36.3q36.3)(D7S550-, G31340-) de novo developmental delay, muscular hypotonia, feeding problems, microcephaly, ptosis, down slanting palpebral fissures, highly arched eyebrows, depressed nasal bridge, partial sacral agenesis, tethered cord, appropriate midline structures of the brain [MRI] q36.3 q36.3     15211664 patient 1   Edit
148 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
149 15211664_3_patient 46, XX. ish der(7)t(7;10)(q36.3;q26.3)(yac765c12/D 7S550-, D7S427-) severe developmental delay, short stature, language defect, congenital cataracts, bilateral colobomas of the choroid , bilateral ptosis, hypoplastic alae nasi, feeding problems, intestine/bladder control problems, muscular hypotonia, absence of primary and permanent incisors in the lower and upper jaws q36.3       15211664, 15294281 patient 3 [15211664], patient 7 (31-28100) [15294281] monosomy of 7q36.3-qter (deletion size < 3.6 Mb); mother had balanced t(7;10); Brain MRI was completely normal Edit
150 22950449 4?,XY.arr 7q36.3(157,742,372-158,022,9 27)x3 de novo bilateral Duane Retraction Syndrome, hypotonia, developmental delay, mild mental retardation, seizures, severe congenital sensorineural hearing loss with abnormal inner ear structures, absent right vertebral artery q36.3 q36.3     22950449   ~281 kb duplication encompasing PTPRN2; sibling died in infancy of congental heart disease; father had hearing loss; extended family history of seizures Edit
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