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 15200505_15 46, XY, der(7)t(7;17)(p22.1;q25.1) pat severe mental retardation, pre- & postnatal developmental delay, micro-brachycephaly, synophrys, long eyelashes, epicanthic fold, flat nasal bridge, bulbous nose, anteverted nostrils, long philtrum, prominent upper lip, high-arched palate, micrognathia, low set dysmorphic ears, postaxial polydactyly of left hand and foot, hypertrichosis, cryptorchidism p22.1   RP11-89J1/ RP11-425P5   15200505 patient 15 monosomy of 7p22.1-pter; breakpoint at 7q lies at about 5.5 Mb from the telomere; father had balanced t(7;17) Edit
5 17103460 46, XX, dup(7). ish dup(7)(pter-> p13::p22.1-> qter)(wcp7+) de novo IUGR, mental retardation, developmental delay, stereotypic behaviour (holding the hands in front of the face and bending of legs), hypotonia, microcephaly, large anterior fontanel, hypertelorism, high forehead, hypertelorism, slight downslanting palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger, abnormal palmar creases p22.1 p13     17103460     Edit
6 MCN_19920002-008 46, XY, t(5;13)(q11.2;q32.1), t(7;8)(p22;q21) macrocephaly, mental retardation, broad nasal bridge, abnormal cardiovascular structure/function p22       MCN ID: 19920002-008 www.mcndb.org Edit
7 MCN_19840001-086 46, XX, inv(7)(p14.3p22) broad nasal bridge, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, syndactyly (other than minimal 2nd and 3rd toes) p22 p14.3     MCN ID: 19840001-086 www.mcndb.org Edit
8 15264281_1_patient 46, XX. ish der(7)inv(7)(p22q36.3)(D7S427-) mat [assumed to be equivalent to rec(2)dup(7p)inv(7)(p22q36.3)] trigonocephaly, microphthalmia, upward slanting palpebral fissures, hypotelorism, midface hypoplasia, depressed nasal bridge, small nose with depressed tip, absent philtrum, bilateral cleft lip, hypoplastic thorax, protruding abdomen, megacolon, uterus bicornis unicollis, hypoplastic pelvis, profound seizures; died at 2 months of age p22 q36.3     15264281 patient 1 (1-00898) monosomy of 7q36.3-qter (deletion of 3.6 Mb) and trisomy of 7p22-pter (duplications of 0.3-5.8 Mb) Edit
9 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
10 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
11 6335372 46, XX, der(7)t(2;7)(q32.1;p22) mat microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils; died a few hours after birth p22       6335372   monosomy of 7p22-pter Edit
12 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
13 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
14 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
15 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
16 9792856_SA 46, XY [del(7)(p21.1p21.2), not visible] Saethre-Chotzen syndrome, craniosynostosis, facial asymmetry, cleft palate, deviated nasal septum, ptosis, hypertelorism, brachdactyly, learning disabilities p21.2 p21.1 D7S507/ D7S488 D7S493/ D7S682 9792856 SA   Edit
17 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
18 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
19 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
20 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
21 12548740 46, XX, del(7)(p15.1p21.1) de novo bilateral anophthalmia, cryptophthalmos, temporal remnant eye tags, bilateral cleft lip, unilateral cleft palate, proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, bilateral external auditory canal atresia p21.1 p15.1     12548740     Edit
22 Ennis_ASHG2004 46, XX, t(3;7)(p13-p12.3;p21.1) de novo nasal glioma p21.1   RP11-123E5   patient 1 Ennis et al., ASHG 2004, Program #720 Edit
23 10417281_1 46, XX, t(2;7)(q33;p21) de novo motor developmental delay, language delay, learning disabilities, cleft palate, prominent nasal bridge, small mouth, long and slender fingers p21       10417281 case 1, MCN ID: 19990006-999 www.mcndb.org Edit
24 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
25 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
26 17228165 46, XX, der(9)add(9p24),1 6qh+ [der(9)t(7,9)(p15.3,p 24)mat] growth-retarded fetus with agenesis of the corpus callosum, enlarged left kidney, single umbilical artery, hypertelorism, depressed nasal bridge, frontal bossing, irregular maxiller alveolar composition, club feet, flexion deformity of the upper extremities, Epstein anomaly, died at 31 week of gestation p15.3       17228165 fetus trisomy of 7p15.3-pter; mother had balanced t(7;9) and 16qh+ Edit
27 23825006 46,XY.arr arr4q13.2q13.3(67,006,250-71,0 68,535)x1 dn,7p21.1p15.3(17,326,553-22,8 69,338)x1 dn [hg19] autistic behaviours, DD, Saethre–Chotzen syndrome, brachycephalicand acrocephalic head, facial asymmetry, high and narrow forehead, sparse and arched eyebrows, hypertelorism, bilateralblepharophimosis and ptosis, epicanthus inversus, depressedand deviated nasal bridge, anteverted nares, maxillaryhypoplasia, strabismus, low set and posteriorly angulated ear with uplifted lobe and prominent crus helixes, cutaneous syndactyly between 2nd and 3rd fingers p15.3 p21.1     23825006   5.5 Mb deletion; discussion of TWIST1 as candidate gene Edit
28 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
29 15635069_B1 46, XY, t(2;7)(q37.3;p15.1) de novo. ish t(2;7)(680O16sp; CTA-471E18sp), dup(3)(p36.3p36.3)(299N3++, 95E11++,10H6++). mild generalized developmental delay, mental retardation, slightly beaked nose, adducted thumbs, brachycephaly, blepharophimosis, medially flared eyebrows, broad nasal tip, short philtrum, thin upper lip, prominent lower jaw p15.1   CTA-471E18   15635069 B1 [15635069], MCN ID: 19990003-002 www.mcndb.org Edit
30 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
31 489013_2 46, XX, t(1;7)(p22;p15)del(7)(p15) craniosynostosis, marked turricephaly, hypotelorism, deeply cleft palate, shallow orbits with prominent bulgind eyes, a depressed nasal bridge, anteverted nostrils, short hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15       489013, 3874588, 4043965, 1519644, 7521123, 12548740 case 22 [7521123], 5 [12548740]   Edit
32 10766985 46, XX, der(9)t(7;9)(p15;p24). ish der(9)t(7;9)(wcp7+, wcp9+) high/large forehead, hypertelorism, braod nasal bridge, hypothyroidism, obesity, cerebral palsy p15       10766985   trisomy of 7p15-pter Edit
33 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
34 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
35 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
36 1879832 46, XX, del(7)(p13p14) de novo Greig syndrome: developmental delay, preaxial polydactyly of toes, postaxial polydactyly of fingers, syndactyly of fingers & toes, macrocephaly, broad nasal bridge, broad thumbs, anterior anus p14 p13     1879832, 7521123, 9520255 case 3 [7521123], GM10609, MCN ID: 19910010-999, lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository; www.mcndb.org Edit
37 Unpublished_GM10925 46, XY, del(7)(p14p12) Greig cephalopolysyndactyly syndrome, broad nasal bridge, extra digits, fused digits, ventricular septal defects, coarctation of aorta p14 p12     GM10925 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; data unpublished Edit
38 NIGMS_GM10925 46, XY, del(7)(p12p14) Greig cephalopolysyndactyly syndrome, broad nasal bridge, extra digits, fused digits, ventricular septal defects, coarctation of aorta p14 p12     GM10925 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
39 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
40 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
41 Baty_ASHG2004 46, XY, t(6;7;11;14)(11qter-> 11q13.5::6p23-> 6q23.3::14q32.1-> 14qter; 6pter-> 6p23::7p13-> 7qter; 11pter-> 11q13.5::6q25-> 6qter; 14p13-> 14q32.1::6q23.3→ 6q25::7p13-> 7pter). nuc ish 6p22.3(RP1-130G2-), 6q25.2(RP11-535A9-) IUGR, growth and developmental delay, bilateral epicanthal folds, low nasal bridge, ptosis, ptosis, full lips, short fingers, clinodactyly, hopotonia, anal tag, moypia, low frontal hairline, neck webbing pectus carinatum, ADHD p13         Baty et al., ASHG 2004, Program #969 Edit
42 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
43 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
44 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
45 MCN_19890002-293 46, XY, inv(7)(p11.2q11.23) mental retardation, broad nasal bridge, anotia/microtia, optic nerve abnormality/a trophy p11.2 q11.23     MCN ID: 19890002-293 www.mcndb.org Edit
46 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
47 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
48 MCN_19920001-092 46, XY, t(5;7;8)(q11;p11;p11) de novo spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, short neck, broad nasal bridge, hearing abnormal congenital/a cquired, visual loss - severe, abnormal vision, mouth held open p11       MCN ID: 19920001-092 www.mcndb.org Edit
49 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
50 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
51 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
52 489013_1 46, XX, t(1;7)(p22;p15)del(7)(p15) craniosynostosis, marked turricephaly, hypotelorism, deeply cleft palate, shallow orbits with prominent bulgind eyes, a depressed nasal bridge, anteverted nostrils, short hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation pter p15.2     489013, 3874588, 4043965, 1519644, 7521123, 12548740 case 22 [7521123], 5 [12548740]   Edit
53 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
54 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
55 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
56 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
57 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
58 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
59 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
60 16530708_2 46, XY [del(7)(pter) de novo was detected by genotyping & FISH] developmental delay, flat forehead, slightly down-slanted palpebral fissures, broad nasal bridge, flared nostrils, short philtrum, high-arched palate, square chin, depigmented areas over the right hand, severe myopia pter pter     16530708 family 2 D7S2477 (7p22.3) on paternal allele and RPCI-1-164D18 (7p22.3) were deleted in genotyping and FISH, respectively Edit
61 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
62 19213595 4?,X?,+7[>30%] sinonasal intestinal type adenocarcinoma pter qter     19213595   observed in 7 of 55 patients Edit
63 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
64 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
65 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
66 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
67 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
68 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
69 15692208 46, XX, del(7)(q11q31) de novo IUGR, micrognathia, upslanting palpebral fissures, broad nasal root and prominent nasal bridges, simian line, complete cutaneous syndactyly of I and II toes, hypoplasia of III toe on the right foot, split foot malformation with complete syndactyly of I-II, IV-V toes, absent III toe on the left foot q11 q31     15692208 fetus fetus aborted Edit
70 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
71 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
72 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
73 10953236 46, XX, del(7)(q11.23q11.23) [assumed] supravalvular aortic stenosis (SVAS), mild mental retardation, broad nasal tip, slightly thick lower lip, dental anomalies, normal birth history q11.23 q11.23 FZD9/ ELN WBSCR1$/ GTF2I$ 10953236, 15994861 RM1199   Edit
74 19752158 46,XY.arr 7q11.23(72,335,939-73,584,0 41)x4 features of autism, developmental delay, severe retardation in language and speech, behaviouralproblems, square face, broad forehead, short palpebral fissures, thin eyebrows, broad nasal bridge, small alae nasi, thin lips,retrognathia, Duane anomaly of left eye, bilateral single palmar creases, fifth toe clinodactyly, shawl scrotum q11.23 q11.23     19752158   ~1.25 MB triplication Edit
75 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
76 Pettigrew_ACMG2007, Bay_ACMG2007 46,XY[50].arr (7q11.23)x3 developmental delay, deficit in expressivelanguage, otitis media, blocked lacrimal ducts, postnatal failure to thrive/GE reflux/oral motor difficulties, long nose, wide nasal tip, prominent columella,long eyelashes, hypoplastic 5th toenails, smooth, short philtrum, left pseudocleft of the lip,bilateral single transverse palmar creases q11.23 q11.23 ELN     Pettigrew et al., ACMG2007, Program #96, Bay et al., ACMG2007, Program #164 Edit
77 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
78 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
79 24246242 4?,XX.arr 7q11.23(73,450,375-73,532,1 93) x1 de novo [hg19] atypical WBS, SVAS, pulmonary stenosis, vascular abnormalities, delays in fine motorskills, full cheeks, broad foreheadwith mild frontal bossing, nevus flammeus on glabella, depressed nasal bridge, short nose, narrow long philtrum, micrognathia, periorbital swelling (later resolved), high arched palate,high gluteal cleft, clinodactyly on left fifth toe q11.23 q11.23       ~81.8 kb deletion involves the ELN and LIMK1 genes only Edit
80 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
81 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
82 11424924 46, XX, del(7)(q21.1q21.3) de novo mental & developmental retardation, partial deficiency of growth hormone secretion, ectrodactyly of the right foot, submucous cleft palate, congenital vertical talus, malformations of the middle ear, profound sensorimeural hearing loss, hypertelorism, depressed nasal bridge, large biparietal diameter, hypopigmented retina, micrognathia, carious primary teeth, hypodontia, sparce light hair, cryptorchidism, joint laxity, hypodontia, short stature, Mondini dysplasia, facial dysmorphism, q21.1 q21.3 rs801856 rs951987 11424924, 15732063, 17898012 17898012_Patient 3   Edit
83 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
84 15326624_1 46, XY, t(5;7;6)(6pter-> 6p24::7q21.1 ->7q21.3::5p13.2 5qter; 7pter-> 7q21.1::5p13.2-> 5pter; 7qter-> 7q21.3::6p24-> 6qter) de novo [del(7q) was detected by Array-CGH] mental and developmental retardation, growth delay, language processing disorder, bilateral cleft lip/palate, sensorineural hearing loss in the right ear, recurrent otitis media, upslanting palpebral fissures, broad nasal bridge, flaring of the alae nasi, mild pectus excavatum, clinodactyly of 5th fingers q21.1 q21.3     15326624 proband   Edit
85 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
86 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
87 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
88 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
89 19864897 46,XX,inv(7)(q21.12q34)dn.arr 3p12.3p13(73,200,000-79,000,0 00)x1 dn neurodevelopmental delay, growth retardation, broad forehead, hypertelorism, broad nasal bridge, microretrognatia, pointed chin, hypophysishypoplasia, gastroesophageal reflux, clinodactyly, preauricular appendix, myopia q21.12 q34     19864897   discussion of ROBO1 , ROBO2 , PDZRN3 and CNTN3 as candidate genes Edit
90 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
91 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
92 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
93 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
94 7762593 46, XY, t(7;3)(3;11)(7pter-> 7q21.3::3q27-> 3qter; 3pter-> 3q23:: 11q21-> 11qter; 11pter-> 11q21::3q23-> 3q27:: 7q21.3-> 7qter) de novo frontonasal dysostosis, atrial septal defect, micropenis, small testes, clubfeet, scoliosis, brain abnormalities, seizures, myopia q21.3       7762593 BP, MCN ID: 19950002-999 www.mcndb.org Edit
95 DGAP014 46, XY, t(3;11)(q23;q21), t(7;der(11)t(3;11))(7pter->7q21.3::3q27->3qter; 11pter->11q21::3q23->3q27::7q21.3->7qter) frontonasal dysostosis, atrial septal defect, micropenis, hypoplastic scrotum, small undescented testes, retarded bone age, seizures, severe neuronal migration abnormalities, absent corpus callosum, absence of gyral pattern in left hemisphere, hypoplastic brainstem, scoliosis, clubfeet, epiblepharon, inability to fully abduct the eyes, myopic astygmatism, high arched narrow palate, tapering fingers, short fifth finger of the left hand, bilateral simian creases. Severe developmental delay q21.3       DGAP014 http://www.bwhpathology.org/d gap/ Edit
96 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
97 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
98 Muneer_A383 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails, clinodactyly, enlarged clitoris, short sternum and delayed growth and development q22         Muneer et al, abstract, #383, Am J Hum Genet 34:A137 Edit
99 Aoki_1977 46, XY, der(9)t(7;9)(q22;p24) mat brachycephaly, antimongoloid slant, exophthalmus, prominent nasal bridge, micrognathia, high arched palate, low set and malformed ear, rocker bottom foot, joint limitation and inability to fully extent of limbs, hypertonia, short stature and developmental retardation q22       11536263   trisomy of 7q22-qter; reported in Aoki et al.: Jap. J. Human Genet, 1997, 22: 164-5 Edit
100 Muneer_1982 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails, clinodactyly, enlarged clitoris, short sternum and delayed growth and development q22       11536263   Muneer et al, 1982, Am J Hum Genet 34: A137 Edit
101 6199974_5 46, XY, del(7)(q22.1q31.32) slightly prominent occiput, narrow sloping forehead, deep set eyes with epicanthal folds, macrocornea and atresia of all four lacrimal puncta, abnormal eye movements, broad nasal tip, broad mouth with downturned corners, cryptorchidism of the right testis, small penis q22.1 q31.32     6199974, 3879441, 2301476, 11045577 patient 5 [6199974], ref. J4 [2301476] de novo or pat Edit
102 11424142 46, XY, dup(7)(q22.1q31.1) de novo Gilles de la Tourette syndrome, thick lips, mental retardation, deafness - neurosensory, low hairline - back, simian creases, crus helix abnormal, high nasal bridge, antihelix hypoplastic/a bnormal, paresis of ocular muscles/squint, micrognathia/a gnathia total/retrognathia q22.1 q31.1 PLANH1 AC004142 11424142, 11254443, 17043892 MCN ID: 20010001-023 www.mcndb.org Edit
103 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
104 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
105 10602362_3 46, XY, t(6;7;18)(6pter-> 6q22::6q25-> 6qter; 18pter-> 18q21.3::7q31.3-> 7q32.1::6q22-> 6q25::18q21.3-> 18qter) pat epicanthic folds, slightly depressed nasal bridge, thick alae nasi, anteverted nares, postaxial hexadactyly of both hands, tapering fingers, small umbilical hernia, normal psychomotor development q31.3 q32.1     10602362 patient 3 third son of 10602362_4 Edit
106 Faas_ASHG2003_2 46, XX, del(7)(q31.3q32.3) de novo moderate mental retardation, short stature, congenital heart anomaly, hypertelorism, wide nasal bridge, broad mouth, club feet q31.3 q32.3     patient 2 Faas et al., ASHG 2003, Program #626 Edit
107 15326624_2 46, XY, t(5;7;6)(6pter-> 6p24::7q21.1 ->7q21.3::5p13.2 5qter; 7pter-> 7q21.1::5p13.2-> 5pter; 7qter-> 7q21.3::6p24-> 6qter) de novo [del(7q) was detected by Array-CGH] mental and developmental retardation, growth delay, language processing disorder, bilateral cleft lip/palate, sensorineural hearing loss in the right ear, recurrent otitis media, upslanting palpebral fissures, broad nasal bridge, flaring of the alae nasi, mild pectus excavatum, clinodactyly of 5th fingers q31.3 q31.3 RP11-110C11/ CTB-133K23 RP11-112P4/ RP11-81B7 15326624 proband   Edit
108 6199974_1 46, XY, del(7)(q32) de novo mental retardation, mild ridging of the metopic suture with slight priminence of the forehead, nasal alae were thickened, hypoplastic midface, short philtrum, macrostomia, prominent chin, mandibular prognathism, widely spaced teeth, fifth finger clinodactyly q32 qter     6199974, 8135290 patient 1   Edit
109 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
110 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
111 3981581_IV-7 46, XY, der(1)t(1;7)(q43;q32), t(1;6)(p22.3;q14.1), t(3;10)(q26.1;p11.21) mat severe mental retardation, dysmorphic features, high arched palate, prominent nasal beaking q32       3981581, 15517824 IV-7, uncle trisomy of 7q32-qter; uncle of 3981581_V-4 Edit
112 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
113 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
114 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
115 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
116 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
117 21082657_2_1 46,XY,ins(7;13)(q32q34;q32).arr 7q32q34(141,630,000–153,870,0 00)x1 delayed psychomotor development, language delay, epilepsy, severe mental retardation, aggressive behaviour, autistic behaviour, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth and thickvermilion, slightlyprominent bilateral deep-tendon reflexes, slightly spastic lowerextremities, tiptoe walks q32 q34     21082657   insertion found in 3 generation family; ~12.2 Mb deletion; NCBI36 Edit
118 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
119 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
120 Faas_ASHG2003_1 46, XX, del(7)(q32.2q33) neurofibromatosis type I (NF-1), mild mental retardation, short stature, microcephaly, hypertelorism, arched eyebrows, upward slanting palpebral fissures, prominent eyes, high nasal bridge, broad mouth, long columella, clinodactyly and short 5th fingers q32.2 q33     patient 1 Faas et al., ASHG 2003, Program #626 Edit
121 2248294_2 46, XY, der(14)t(7;14)(q33;p12) mat epicanthic fold, downslanting eyes, depressed nasal bridge, small nose, microretrognathia, hypertelorism, renal microcysts, skeletal anomalies, single palmer crease, short neck, hip dislocation q33 qter     2248294, 11531975 patient 2 trisomy of 7q33-qter; spontaneously aborted fetus at 17 weeks; mother had balanced t(7;14); sibling of 2248294_1 Edit
122 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
123 24411055 46,XX,del(7)(pter / q32:) dn.arr 7q33(135,353,693-158,602,4 99)x1 semilobar holoprosencephaly, premaxillary dysgensis (bilateralcleft lip/cleft palate), massive left pleural effusion, ascites, hydrops fetalis,flat/b road nasal bridge, upslanting palpebral fissures q33 qter     24411055 22 week aborted fetus ~23.25Mb deletion Edit
124 8348155_1 46, XY, t(7;17)(q34;q25.1) de novo campomelic dysplasia: large skull, sex reversal; flat nasal bridge; micrognathia q34       8348155, 8001137 case 1, MCN ID: 19900007-047 www.mcndb.org Edit
125 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
126 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
127 8985736_index 46, XX, der(7)t(7;8)(q34;p12) mat facial dysmorphism including cleft lip/palate, broad nasal bridge, short neck with minimal nuchal skin edema q34       8985736 index patient (18-week fetus, III-20) monosomy of 7q34-qter; aborted fetus of 8985736_mother Edit
128 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
129 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
130 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
131 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
132 21082657_2 46,XY,ins(7;13)(q32q34;q32).arr 7q34q36.2(141,630,000–153,8 70,000)x1 delayed psychomotor development, language delay, epilepsy, severe mental retardation, aggressive behaviour, autistic behaviour, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth and thickvermilion, slightlyprominent bilateral deep-tendon reflexes, slightly spastic lowerextremities, tiptoe walks q34 q36.2     21082657   ~12.2 Mb deletion; NCBI36 Edit
133 6199974_2 46, XX, del(7)(q35) de novo microcephaly, developmental delay, upslanting palpebral fissures with a depressed nasal bridge, mild micrognathia, small anterior fontanel, capillary hemangioma of the nose, small nose, long upper lip with prominent longitudinal ridges of the philtrum, lateral palatine ridges, hyperextensible fingers, clinodactyly of the 4th toes q35 qter     6199974, 8135290 patient 2   Edit
134 317790 46, XY, del(7)(q35) de novo unusual cry, microcephaly, bulbous nasal tip, broad thorax with widely spaced nipples q35 qter     317790, 6758992, 8135290 case 31 [6758992]   Edit
135 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
136 2250634_1 46, XX, del(7)(q35) de novo moderate psychomotor developmental retardation, microcephaly, broad nasal bridge, bulbous nasal tip, small and prominent chin, short neck, seizures q35 qter     2250634, 8135290 case 1 (G.C.)   Edit
137 Numabe_1 del(7)(q35q36.3) microcephaly, brachycephaly, right blepharoptosis, right microphthalmia, hypotelorism, microtia, low nasal bridge, bulbous nose, anteverted nostril, high philtrum, microstomia, high-arched palate, short neck, short sternum, widely spaced nipples, large areola of nipples, pectus excavatum, left sacral dimple, sacral agenesis, growth retardation q35 q36.3 D7S505/ D7S483 D7S637/ D7S594 del(7)(q35q36.3) Numabe et al. - personal communication Edit
138 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
139 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
140 8896571_T4 46, XX, t(7;17)(q36;p12) phenotypically normal, child with ptosis, inner canthal folds, prominent nasal root, columella below ala nasae, nuchal webbing, abnormal palmar creases, fifth finger clinodactyly q36   D7S104/ D7S2465   9254845, 8896571 1173, T4   Edit
141 1605268_1 46, XY, der(7)t(3;7)(p25.3;q36) pat Pallister-Hall syndrome, premaxillary agenesis, microphthalmia, cleft lip/palate, agenesis of nasal septum, micrognathia, micropenis, hypopituitarism, died at 5 weeks of necrotizing enterocolitis q36       1605268, 8135290, 10521829 patient 1 [1605268] monosomy of 7q36-qter; child of 9254845_556 Edit
142 2624261_II-5 46, XX, der(7)t(7;9)(q36;q34) mat. ish der(7)t(7;9)(D7Z1+, D7S427, ABL+) holoprosencephaly, absent nasal cartilages,c left lip, mental retardation, exophthalmos, hypotelorism, facial asymmetry q36   LL07NC01-96-well-199b9/ LL07NC01-96-well-190c1   2624261, 1897576, 8485580, 8135290, 9254845 patient II-5 [2624261], 107 [9254845], GM13687 (family 1637, affected sister) monosomy of 7q36-qter; daughter of 2624261_I-2; GM13687: lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository Edit
143 2309771_familyM_infant 46, XX, der(7)t(4;7)(q31;q36) mat [inferred, not karyotyed] alobar holoprosencephaly, premaxillary agenesis with cleft lip/palate, aplasia of the nasal bridge, hydronephrosis q36       2309771, 8326499 family M, infant born at 37 weeks monosomy of 7q36-qter; infant of 2309771_familyM_mother Edit
144 2624261_II-2 46, XY, t(7;9)(q36;q34) mat. ish t(7;9)(D7Z1+, D7S427-, ABL+; D9Z1+, ABL-, D7S427+) mental retardation, microcephaly, ear malformations, flar/broad nasal bridge, bulbous nasal tip, q36       2624261, 1897576 patient II-2 [2624261], GM13688 (family 1637, brother), MCN ID: 19890006-999 son of 2624261_I-2; GM13688: lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; www.mcndb.org Edit
145 8089961_2 46, XX, der(7)t(2;7)(q31;q36) mat stillborn, intrauterine growth retardation, frontonasal dysplasia, arrhinencephaly, other CNS abnormalities, pulmonary hypoplasia, cartilaginous deficiency of trachea and bronchus, severe tetralogy of Fallot, gastrointestinal tract anomalies, genitourinary tract anomalies, flexion contractures of joints with webbings q36       8089961, 8135290 case 2 monosomy of 7q36-qter; fatal blood sampling; mother and maternal grandmother had balanced t(2;7) Edit
146 14663834 46, XX, add(7). ish der(7)t(2;7)(p22;q36) de novo [11]/ 46, XX [11] [amniotic fluid & blood at birth] sacrococcygeal teratoma (immature), prominent high forehead, small nose with depressed nasal bridge, micrognathia with carp shaped mouth, died of postoperative complications at 7 days after birth, considered as partial Currarino syndrome; mother had polyhydramnios at 32 weeks' gestation q36       14663834 newborn monosomy of 7q36-qter; hemizygous for HLXB9 Edit
147 Mehta_ASHG2003_fetus 46, XX, der(7)t(5;7)(q35;q36) pat alobar holoprosencephaly, single orbit, absent nasal structures, supraorbital proboscis, large inlet-VSD and small mid-muscular VSD [detected by ultrasound] q36       infant monosomy of 7q36-qter; fetus of Mehta_ASHG2003_father; Mehta et al., ASHG 2003, Program #2484 Edit
148 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
149 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
150 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
151 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
152 22821890_2 46,XX,der(7)t(7;17)(q36;p13)mat.arr (7q36.2qter )x1, (17pterp13.1)x3 severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, narrow sloping forehead, down-slanting palpebral fissures, ptosis, exophthalmus, epicanthus of right eye, strabismus divergens, slightly prominent and overhanging nasal tip, broad nasal bridge, small nostrils, hypoplastic alae nasi, prognathism, short distal phalanges with poorly developed nails, bilateral syndactyly of the toes q36       22821890     Edit
153 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
154 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
155 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
156 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
157 Numabe_2 46, XX, del(7)(q36.1q36.3) de novo sacral agenesis, pre- & postnatal growth retardation, speech delay, high forehead, bilateral macrotia, low nasal bridge, bulbous nose, high philtrum, thin lower lip, prognathism, constipation q36.1 q36.3 D7S483/ D7S798 D7S637/ D7S594 del(7)(q36.1q36.3) Numabe et al. - personal communication Edit
158 Pappas_ASHG2005_3 4?, X?, del(7)(q36.1q36.3) speech delay, developmental delay, prominent forehead, upslanted palpebral fissures, bulbous nasal tip, high arched palate, flat feet q36.1 q36.3     case 3 D7S427 (7q36.3) was not deleted; Pappas et al., ASHG 2005, Program #599 Edit
159 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
160 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
161 16630174 46, XX [del(7)(q36.2q36.3) detected by array CGH] holoprosencephaly - single central maxillary incisor, absent upper midline labial frenulum, congenital nasal pyriform aperture stenosis, microcephaly; global developmental delay, bilateral ptosis, increased partial thromboplastin time; mild reduction in frontal lobe volume (MRI) q36.2 q36.3 RP11-27E20/ RP11-1073N5 RP11-232K17/ RP11-465H4 16630174     Edit
162 22821890_1 46,XX,der(7)t(7;17)(q36;p13)mat.arr (7q36.2qter )x1, (17pterp13.1)x3 severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, narrow sloping forehead, down-slanting palpebral fissures, ptosis, exophthalmus, epicanthus of right eye, strabismus divergens, slightly prominent and overhanging nasal tip, broad nasal bridge, small nostrils, hypoplastic alae nasi, prognathism, short distal phalanges with poorly developed nails, bilateral syndactyly of the toes q36.2 qter rs11543936/r s2316539   22821890   ~4.4Mb deletion Edit
163 23401163 46,XY,del(7)(q36.1 q36.3).arr 7q36.2q36.3(153,206,357–156,1 33,135)x1 dn [hg19] congenital eye abnormalities, short stature, tracheomalacia, deviated septum, bilateral vertical talus, failure to thrive, long thin face, bitemporalnarrowing, midface hypoplasia, depressed nasal bridge, longnasal ridge, smooth short philtrum, thin upper lip vermillion, tapered fingers, proximal implantation of thumbs, short fifthfinger, pes planus, high palate, absence of two incisors q36.2 q36.3     23401163     Edit
164 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
165 15211664_2 46, XY. ish del(7)(q36.3q36.3)(D7S550-, G31340-) de novo growth delay (growth hormone deficiency), single maxillary central incisor, bulbous nasal tip, midface hypoplasia, strabismus convergens, ptosis, partial agenesis of the corpus callosum, hypoplasia of the pituitary gland [MRI] q36.3 q36.3     15211664 patient 2   Edit
166 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
167 McWalter_ACMG2008 46,XX.arr (7q36.3)x1 mat IUGR, deviated nasal septum, microcephaly, hypotelorism, left-sided ptosis, downslanting palpebral fissures, prominent nose and nasal bridge, growth deficiency, bilateral retinal coloboma q36.3 q36.3 SHH     McWalter et al., ACMG2008, Program #144, ~300Kb deletion Edit
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