The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Search Results

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 11005146_2 45, XY, psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) de novo craniosynostosis, microcephaly, scaphocephaly, bilateral cataracts, dysmorphic facies (frontal bossing, epicanthal folds, prominent ears, broad short nose with a low nasal bridge, micrognathia, retrognathia), bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, deep palmar creases, developmental delay, hypospadias, curvature of the penis, hypotonia p22.3       11005146, 12548740 case 22 [12548740]   Edit
2 24458843 4?,XX.arr 7p22.3(46,845–665,1 58)x3 de novo sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broadfinger tips, short distal phalanx of fingers, swan neck deformity offingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, unilateral clubfoot, midface retrusion, telecanthus, overhanging nasal tip, flat nose, broad and low hangingcolumella, wide nasal base, crowded teeth, low-set ears,pectus carinatum p22.3 p22.3     24458843   ~618 kb duplication Edit
3 12457405 46, XX, der(7)t(7;16)(p22.3;q24.1) de novo [detected by FISH & CGH] psychomotor and mental retardation, high forehead with bitemporal narrowing, broad nasal bridge, broadened nose, downslanting palpebral fissures, abnormal ears, vertebral abnormalities, cardiac defect, genital hypoplasia, anal abnormalities p22.2 - 22.1   D7S531/ D7S517   12457405   monosoy of 7p22.3-pter (by FISH); molecular cytogenetic data is not consistent with karyotype Edit
4 3839444_1 46, XX, der(7)t(3;7)(p24.3;p22.1) mat psychomotor developmental delay, especially language delay, facial dysmorphism, asymmetric skull with a prominent right frontal boss, flattened face and broad neck, antimongoloid slant of eyes, esotropia, short nose with flattened base and small pit at the top of the philtrum, microstomia, thick lips, high arched palate, retroverted ears with excess folds, epileptic signs p22.1       3839444 case 1 monosomy of 7p22.1-pter Edit
5 15200505_15 46, XY, der(7)t(7;17)(p22.1;q25.1) pat severe mental retardation, pre- & postnatal developmental delay, micro-brachycephaly, synophrys, long eyelashes, epicanthic fold, flat nasal bridge, bulbous nose, anteverted nostrils, long philtrum, prominent upper lip, high-arched palate, micrognathia, low set dysmorphic ears, postaxial polydactyly of left hand and foot, hypertrichosis, cryptorchidism p22.1   RP11-89J1/ RP11-425P5   15200505 patient 15 monosomy of 7p22.1-pter; breakpoint at 7q lies at about 5.5 Mb from the telomere; father had balanced t(7;17) Edit
6 Papadopoulou_ESHG2006 46, XX. [del(7)(q11.23q11.23) de novo was detected by array CGH] psychomotor retardation, stereotypic behavior, generalized hypotonia, peculiar thin Wolf-Hirschhorn syndrome-like facies (high forehead, hypertelorism, slight palpebral fissures, pale highly arched eyebrows, thin lips, high narrow palate, micrognathia, straight and thin nose with a broad bridge, slightly angulated pointed tip and narrow inverted nostrils), low set ears, abnormal palmar creases, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger p22.1 p13       Papadopoulou et.al., ESHG, 2006, P0007 Edit
7 22495914 46,XX.arr 7p22.1(5,337,072-6,316,9 15)x3 de novo [hg18] intellectual disability, macrocephaly spastic diplegic cerebral palsy, abnormal EEG, internal hydrocephalus, vegetodystonia, truncual obesity, low-set and protuding ears, downslanting palpebral fissures, ocular hypertelorism, short nose, anteverted nares, midface hypoplasia, facial asymmetry, severe microretrognathia, high and narrow palate, microstomia, thin lips, midline pseudo-cleft upper lip, tapering fingers, abnormal palmar dermatoglyphic patterns, contractures of the Achilles tendons, scoliosis, short Vth toes p22.1 p22.1     22495914   979.8 kb duplication; discussion of ACTB as candidate gene Edit
8 1552550 46, XX, inv(7)(p22q11.23), r(8)(p23q24.3) de novo congenital microcephaly, psychomotor developmental delay, high arched palate, prominent nose, no speech p22 q11.23     1552550     Edit
9 11992485_1 46, XX, dup(7)(?p15.3?p22) [75]/ 46, XX [15] global intellectual impairment, rebellious behaviour, psychosis, shallow supraorbital ridges, large nose, high palate p22 p15.3     11992485 patient 1 mother of 11992485_2 Edit
10 14679581_4_1 46, XY, inv(7)(7pter-> 7p22::7q21.11-> 7p22::7q21.11-> 7qter), der(10)t(7;10;12)(12qter-> 12q21.3::7q21.11-> 7q21.11::10p13-> 10qter), der(12)t(10;12)(12pter-> 12q21.3::10p13-> 10pter) psychomotor delay, large skull, frontal bossing with receding frontal hairline, sparse eyebrows and eyelashes, large nose, small mouth, speech problems p22 q21.11   RP4-802A9/ RP5-897G10 14679581 patient 4   Edit
11 624544_proband 46, XY, der(7)t(7;12)(p22;p11) mat mental and motor retardation, hypotonia, high prominent forehead, flat occiput, flat face, broad eyebrows, nystagmus, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, short neck, short fingers and toes, spade-shaped tapering fingers p22       624544 proband, IV-3 (VR) monosoy of 7p22-pter; mother had balanced t(7;12) Edit
12 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
13 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
14 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
15 6711563 46,XX or XY, der(7)t(7;15)(p22;q23) mental retardation (8/8), growth retardation (6/8), microcephaly (5/8), facial asymmetry (7/7), prominent nose (7/8), high palate (7/7), micrognathia (4/6), scoliosis (7/7), cryptorchidism (only males), hyperextensible thumbs (5/5), congenital heart disease (4/8) p22       6711563 nine family members monosomy of 7p22-pter Edit
16 3976719_1 46, XX der(7)t(7;9)(p22;p13) mat developmental & growth retardation, antimongoloid slant of palpebral fissures, asymmetric anteverted & anteflexed angulated ears, large nose, down-turned corners of mouth, high palate, camptodactyly of II & III fingers, bilateral clinodactyly of 5th fingers, umbilical hernia, various infectious diseases during early infancy p22       3976719 patient 1 (S.V.M., proposita) sister of 3976719_2; monosomy of 7p22-pter; mother (I.M.) and sister (S.C.M.) had balanced t(7;9) and ptosis Edit
17 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
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 Stoler_2005 46, X? [del(7)(p21.2p21.2), not visible] Saethre Chotzen syndrome; ptosis, cleft palate, asymmetric face (esp., nose), small ears (no craniosynostosis, no brachy- or syndactyly, no hallux valgus) p21.2 p21.2 TWIST1$ TWIST1$ two cases microdeletion of 18 bp within TWIST1 (NM_000474) (case 1), and his father had dramatic unilateral ptosis, asymmetric nose, and hallux valgus; reported at Annual Clinical Genetics Meeting, 2005 (#125) Edit
20 8280871_baby 69, XXX, rec(7)dup(7p)inv(7)(p21q32), rec(7)dup(7q)inv(7)(p21q32) pat prominent occiput with open posterior fontanelle, low-set and small ears, iris colobomata, microphthalmia, possible glaucoma, hypotelorism, prominent nose, microstomia, hypoplastic external genitalia, bilateral complete 3/4 syndactyly of fingers, syndactyly of VI-V toes on the left, equinus deformity on the right foot, holosystolic murmur, enlarged heart, died the day after birth p21 q32     8280871 baby balanced rearragement Edit
21 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
22 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
23 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
24 11916331_1394 46, XX, inv(7)(p15q36) [2]/ 46, XX [98] autism, low posterior hairline, upslanting palpebral fissures, beaked nose, prognathism, coarse lips, halux valgum, kyphosis, lordosis p15 q36     11916331 1394   Edit
25 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
26 16317299_1 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass p13 - 14       16317299   trisomy of 7p detected by FISH (seen in only skin fibroblast) Edit
27 9703427_B 46, XY, ins(7;?)(p13;?). ish ins(7;?)(p13;-s)(wcp 1-, 7-, 13-, 14-, 15-, 21-, 22-, D1Z3-, D1Z7-, all-α-s-, acrocentric -s+) mat developmental delay, feeding difficulties, growth delay, triangular face, frontal bossing, broad small nose, down-turned mouth, small head, clinodactyly of 5th fingers, p13       9703427 case B phenotypically normal mother had same insertion; insertion of beta-satellite DNA into the short arm Edit
28 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
29 1483693 47, XX, + mar de novo [+der(7)t(X;5;7)(p22.1;q35;p13q21) detected by FISH] mental retardation, short stature, short palpebral fissures, convex/beaked profile of nose, small mandible/micrognathia, single palmar crease, high palate p13 q21     1483693 PL trisomy of p13-q21 Edit
30 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
31 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
32 3096136 46, XY, del(7)(cen-q11.2) severe mental retardation, spastic quadriplegia, narrow forehead, short nose, long ears and philtrum, malar hypoplasia, peridontal disease, pulmonic stenosis, severe kyphoscoliosis cen q11.2     3096136, 3354600, 2194394, 1456281 case 3 [2194394], case 4 [1456281]   Edit
33 3879440_proband 46, XY, del(7)(cenq21) mat flat face with hypertelorism, broad nose, anteverted nares, right-sided choanal atresia, left-sided cleft lip, retrognathia, large low-set and malformed ears, micropenis, bilateral cryptorchidy, severe heart malformations, absence of right adrenal gland cen q21     3879440, 2194394, 1456281 WS, proband [3879440], case 1 [2194394, 1456281] child of 3879440_mother, brother of 3879440_brother Edit
34 2679090_3 46, XY, dup(7)(p14.2-pter) low-set ears, beaked nose, micrognathia, prominent forehead, bilateral contractures of the wrists and fingers, gena recurvata pter p14.2     2679090, 8839888 patient 3 [2679090], Ref. 14 [8839888]   Edit
35 11477611_1 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties pter p10     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
36 Shimizu_A413 47, XX, +7p dysmorphic face, congenital heart defects, arched eyebrows, hypertelorism, low-set and malformed ears, broad nose, micrognathia, highly arched palate, short and webbed neck, hip joint dislocation and overlapped fingers pter p10       Shimizu et al., abstract, A413 Edit
37 ECACC_94071505 46, XX, t(7;8), inv(8)(q21.2?:q24.1)(q21.2) tricho-rhino-phalangeal syndrome type I, bulbous nose, long philtrum, sparse hair, tapered fingers pter qter     94071505 (cell line: AL0030) www.ecacc.or.uk Edit
38 8923948 47, X?, +7/ 46, X? 2 of 14 were small for gestational age; the rest were normal pter qter     8923948, 9106539 14 cases 14 pregnancies diagnosed by CVS; follow-up amniocentesis showed normal karyotype Edit
39 15337469_1 47, XX, +mar. ish r(7)(p?q?)(D7Z1+, ELN+) [38]/ r(7)(D7Z1++, ELN++) [2] de novo / 46, XX [12] mild motor developmental delay, broad forehead, asymmetrical facial appearance, plagiocephaly, short nose with anteverted nostrils, long and slender extremities, moderate deafness pter q21.2   ELN/ D7S522 15337469 case 1 in 4% of the cells analyzed, maker r(7) was duplicated and dicentric (D7Z1, ELN) Edit
40 1248176 46, XY, 20q+ [der(20)t(7;20)(p?;q?), inferred] mental retardation, 22 of IQ, feeding problems in infancy, micrognathia, low-set ears, genu valgum, asymmetric face and skull, thin & long nose pter p10     1248176, 2363431 M60 (GP170545) trisomy 7p Edit
41 16317299_2 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass pter qter     16317299   mosaicism for monosomy 7 suggested by microarry gene copy number (50% of blood cells); the other 50% carried two complete copies of chr. 7 that exhibited segemantal UPD(7) Edit
42 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
43 Aboura_ASHG2006 46, XX. ish der(7)t(7;13)(qter+;qter-) (BACs+,BACs-), rev ish enh(7)(qter)dim(13)(qter) de novo psychomotor developmental delay, wide forehead, long face, large nose, very small low implanted & posterior rotation ears, heavy cheeks, double chin qter qter       monosomy of 7qter; Aboura et al., ASHG 2006 Edit
44 18300171_MM6 46,XX,r(7) [10% ]/46,XX dysmorphic face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf-au-lait spots, microcephaly, growth delay, speech delay, severe intellectual impairment, seizures pter qter     18300171 MM6   Edit
45 4349228 46, X, t(Y;7)(q?;q?) microcephaly, marked hypertelorism, bilateral epicanthal folds, flat notched nose q10 qter     4349228, 1086632 KT   Edit
46 11477611_2 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties q10 qter     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
47 3391618_2 46, XX, i(7)(q10) [12] [May/13/92]
46, XX, i(7)(q10) [17] [Jun/30/92]
46, XX, i(7)(q10) [30][Dec/02/9 7]
Shwachman syndrome, exocrine pancreatic insufficiency, persistent neutropenia q10       3391618, 11063802, 15474150, 16382447 case 2 (M.L.) [11063802], 5 [16382447] sib diagnosed with Shwachman syndrome had normal karyotype Edit
48 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
49 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
50 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
51 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
52 6199974_3 46, XX, del(7)(q11.21q21.11) de novo abnormal EEG, unusual facial appearance, flat occiput, narrow forehead, downslanting palpebral fissures, puffy eyelids, epicanthal folds, broad nose with bulbous tip, micrognathia with thick lips, high palate, early breast development, deep sacral dimple, bilateral inguinal hernias, thin limbs q11.21 q21.11     6199974, 2194394, 1456281 patient 3 [6199974], case 4 [2194394], case 5 [1456281]   Edit
53 Unpublished_17430 46, XY. WBS INV-II anxiety disorder q11.23 q11.23 D7S613/ D7S1870 D7S2490/ D7S1440 12690205 17430 daughter was diagnosed with Williams syndrome Edit
54 Connell_BSHG2005_proband del(7)(q11.23q11.23) pat Williams syndrome, aortic and pulmonary stenosis with stenosed ostia of coronary arteries, died from heart abnormalities (both twins); tracheo-oesophageal fistula (only twin 2) q11.23 q11.23 cos82c2   twin boys (twin 1 & 2) small deletion of 140kb within ELN; paternal grandfather had same deletion, but no cardiac abnormalities; reported by Connell et al. at British Human Genetics Conference 2005, Abstract #2.40; children of Connell_BSHG2005_father Edit
55 16317299_3 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass q11.23 qter D7S1870/ D7S669   16317299   segmental maternal UPD (isodisomy, only seen in blood sample) detected by microsatellite analysis & microarray analysis Edit
56 16317299_4 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass q11.23 q11.23 SNP_A-1518210/ SNP_A-1517101 SNP_A-1516005/ D7S1870 16317299   7q LOH indicated by microsatellite analysis & microarray analysis (seen only in blood sample) Edit
57 16391556_1 46, XY, dup(7)(q11.23q11.23) pat [detected by MLPA & FISH] mild aberrant shape of the skull (prenatally diagnosed with trigonocephalic synostosis of the metopic ridge; reconstructed) q11.23 q11.23 CALN1/ FKBP6 GTF2I$/ HIP1 16391556, 17075606 case 1 father with the same duplication had a complete cutaneous III-IV syndactyly of the hand &II-III syndactyly of the feet, and both his parents showed syndactyly but no duplication Edit
58 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
59 14556246_K2116 46, XY or XX, del(7)(q11.23q11.23) [assumed] supravalvular aortic stenosis (SVAS), Williams syndrome cognitive profile (WSCP); son had mistral valve prolapse; mother had WS facial features; son was diagnosed with WS, but had no WS facial features q11.23 q11.23 FKBP6/ BCL7B LIMK1/ cos209c11 14556246 K2116 (I-2, mother; II-1, son of II-1) ~850 kb deletion including BCL7B through WBSR5 Edit
60 19568270_WBS207 46,XY,del(7)(q11.23q11.23)de novo mild Williams syndrome, normal IQ, mild SVAS, hypermetropic astigmatism, convergent strabismus, bitemporal narrowing, broad forehead, short upturned nose with bulbous tip, long philtrum, full lips, bilateral clinodactyly, hoarse voice, mild limitation of supination and pronation of the forearm, valgus flatfoot, knock knees q11.23 q11.23 BAZ1B CLIP2/GTF2IRD1 19568270 WBS207 atypical deletion of ~1 Mb, bp lies between exon 3 and 4 of BAZ1B, excludes GTF2IRD1, GTF2I and 3' end of BAZ1B Edit
61 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
62 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
63 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
64 2693190 46, XY, der(17)t(7;17)(q21;25) pat small nose, micro/retrognathia, low-set & malformed ears, short neck, cerebral malformation (large ventricles) q21       2693190, 11536263   trisomy of 7q21-qter; father had balanced t(7;17) Edit
65 16086437_fetus 46, XY, der(9)(7qter-> 7q21::9p24-> 9qter)t(9;7;11) mat right club foot, multilobated lung, ectopic kidney, flattened nose, micrognathia, hypertelorism, long philtrum, low-set ears, shot neck, sex reverse, cerebellar hypoplasia, hydrocephalus ex vasuo, incomplete intestinal rotation q21       16086437 19-week-old fetus trisomy of 7q21-qter & monosomy 9p24-pter Edit
66 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
67 ECACC_94091505 46, XX, dir ins(22;7)(q13.3;q21.1)mat phenotype abnormal q21.1       94091505 (cell line: CC0130) sister of CC0023 (46, XY, 22q+; diagnosed with micrognathia), daughter of ECACC_94093005 (CC0131); www.ecacc.or.uk Edit
68 9718347_SV 46, XY, der(9)t(7;9)(q21.1;p24) mat small & beaked nose, micrognathia, low-set, posteriorly rotated ears, widely separated and continuous anterior and posterior fontanelles, long fingers and toes, scoliosis, joint contractures, sacral dimple, complex congenital heart disease including patent ductus arteriosis, ventricular septal defect, atrial septal defect and hypoplastic aortic arch, ambiguous genitalia, rudimentary uterus q21.1       9718347, 11536263 SV trisomy of 7q21.2-qter; first reported in Begleiter et al., 1995, Am Hum Genet 57: A107 Edit
69 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
70 14679581_4_2 46, XY, inv(7)(7pter-> 7p22::7q21.11-> 7p22::7q21.11-> 7qter), der(10)t(7;10;12)(12qter-> 12q21.3::7q21.11-> 7q21.11::10p13-> 10qter), der(12)t(10;12)(12pter-> 12q21.3::10p13-> 10pter) psychomotor delay, large skull, frontal bossing with receding frontal hairline, sparse eyebrows and eyelashes, large nose, small mouth, speech problems q21.11 q21.11 RP4-802A9/ RP5-897G10 RP4-649P17/ RP11-727N2 14679581 patient 4   Edit
71 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
72 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
73 18080328_3 46,XX,inv(7)(q22.1q31.2)t(7;8)(q21.3q22.1; q23.3q24.12) [del(7)(q21.13q21.13) detected by microarray] ectrodactyly of right hand and feet, tetralogy of Fallot, cleft palate, deafness, craniofacial dysmorphic features, psychomotor delay, delayed developmental milestones, increased biparietal diameter, mandibular hypoplasia, sparse scalp hair, bulbous nose tip, long flat philtrum, and protruding ears, hypoplasia of shoulder girdle, pectus carinatum q21.13 q21.13 CTB-128M16/R P11-215P16 RP11-215P16/R P5-1084H12 18080328 propositus ~450 Kb deletion containing PFK1 and FZD1 genes Edit
74 Milunsky_A841 46, XY, del(7)(q21.2q22) ocular hypertelorism, a beaked nose, low set ears, bilateral simian creases and a ventricular septal defect q21.2 q22       Milunsky et al, abstract #A841 Edit
75 18080328_2 46,XX,inv(7)(q22.1q31.2)t(7;8)(q21.3q22.1; q23.3q24.12) [del(7)(q21.13q21.13) detected by microarray] ectrodactyly of right hand and feet, tetralogy of Fallot, cleft palate, deafness, craniofacial dysmorphic features, psychomotor delay, delayed developmental milestones, increased biparietal diameter, mandibular hypoplasia, sparse scalp hair, bulbous nose tip, long flat philtrum, and protruding ears, hypoplasia of shoulder girdle, pectus carinatum q21.3 q22.1 RP11-15F5 RP11-10D8 18080328 propositus ~2.5 Mb translocated Edit
76 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
77 3741831 46, XX, der(7)t(5;7)(q31;q22) bilateral blepharoptosis, microcephaly, broad nose, mental and physical retardation associated with spastic palsy and hearing impairment, Leber's congenital amaurosis q22       3741831, 8135290   monosomy of 7q22-qter; de novo or pat Edit
78 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
79 van Maldergem_ESHG1991 46, XY, del(7)(q22) microcephaly, hirsutism, small triangular face, short palpebral upward oriented fissures, short nose with anteverted nostrils, hypertrophic arches of the mandible, hypoplastic receding chin, long philtrum, small month, medial cleft/palate, balanic hypospadias with bilateral cryptorchidism, symptomatic cardiac malformation (aortic coarctation), urethral stenosis, died on day 2 q22 qter     8135290   reported by van Maldergen et al. at Eur Soc Hum Genet, 1991, Leuven, I.264 Edit
80 3741831_2 46, XX, -7, +der(7), t(5:7)(q31:q22) bilateral blepharoptosis, telecanthus, microcephaly, broad nose, severe mental andphysical retardation, spastic palsy,hearing impairment, mottled retina, maculasshowed a reddish spot surrounded by a broad greyishretinal zone q22       3741831     Edit
81 18080328_1 46,XX,inv(7)(q22.1q31.2)t(7;8)(q21.3q22.1; q23.3q24.12) [del(7)(q21.13q21.13) detected by microarray] ectrodactyly of right hand and feet, tetralogy of Fallot, cleft palate, deafness, craniofacial dysmorphic features, psychomotor delay, delayed developmental milestones, increased biparietal diameter, mandibular hypoplasia, sparse scalp hair, bulbous nose tip, long flat philtrum, and protruding ears, hypoplasia of shoulder girdle, pectus carinatum q22.1 q31.2 RP11-80P24 RP11-643M13 18080328 propositus   Edit
82 15517824 46, XX, t(6;7)(p25;q31) de novo posterior cleft palate q31       15517824 MCN ID: 20040002-999 third child from first-degree consanguineous marriage; first and second children were diagnosed with Aase-Smith syndrome type II; www.mcndb.org Edit
83 10602362_1_1 46, XY, t(6;7;18)(7pter-> 7q31.3::18p11.21-> 18pter; 7qter-> 7q32.1::18p11.21-> 18q21.3::7q31.3-> 7q32.1::6q22-> 6q25::18q21.3-> 18qter) pat small nose, prominent upper lip, prominent philtrum, umbilical hernia, rt. inguinoscrotal hernia, small thorax with thin ribs, single palmar creases, syndactyly between toes IV and V, brachycephaly, myopia, small penis, clinodactyly V, decreased motor skill, ventricular septum defect q31.3 q32.1     10602362 patient 1 first son of 10602362_4 Edit
84 631854 46, XX, del(7)(q32) de novo, t(8;9)(q12;q33) pat growth and developmental delay, microcephaly, bulbous nose, prominent lips and philtrum, esotropia, latent hypermetropia, spasticity q32 qter     631854, 6758992, 8135290 proposita [631854], case 21 [6758992] father, grandfather and sister had same translocations Edit
85 912940_4 46, XY, del(7)(q32) de novo cleft lip/palate, flat nose, brachycephaly, malforned and misaligned teeth, large ears with prominent antitragi, slight pectus excavatum, very small penis, bilateral cryptorchidism, right inguinal hernia, mildly hypotonic, mental retardation q32 qter     912940, 537019, 6758992, 8135290 case 4 (F.C.) [912940], case 11 [537019], case 20 [6758992] probably holoprosencephaly (+) Edit
86 3055986 46, XY, del(7)(q32) short nose with bullous tip, prominent forehead, large ears with simple helix, slight antimongoloid slant, thin upper lip, broad mouth, micrognathia with prominent fat pad on chin, wide spaced nipples, glandular hypospadia, clubfeet, absence of lower sacral vertebrae q32 qter     3055986, 8135290 DC   Edit
87 6533358 46, XY, del(7)(q32) de novo mental and growth retardation, wide and flat face with a prominent forehead, heavy cheeks, bulbous nose with a fleshy, flattened tip, thick lips, small and round chin, flattened occiput, high-arch palate, short neck, wide-spaced nipples, protruding heels, left double ureter and double pelvis, epileptic seizure q32 qter     6533358, 8135290 S.N. father had 47, XYY Edit
88 478537_IV-1 46, XY, der(2)t(2;7)(q37;q32) pat dysplastic traits, asymmetric skull with projecting ossa parietalia, mongoloid, short neck, flat nose, soft epiglottis, hydrocele testis, severe pyschomotor retardation, developmental delay q32       478537 proband, IV-1 trisomy of 7q32-qter Edit
89 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
90 12575020_proband2 46, XX, der(7)t(1;7)(q32;q32) pat hypotelorism, flat nose, cleft lip, cleft palate q32       12575020 proband 2 amniocytes; monosomy of 7q32-qter; pregnancy was terminated at 24 weeks Edit
91 537020_cousin _III-10 46, XY, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, speech delay, hypertelorism, bulbous nose, synophrys, wide mouth, large ears q32 q34     537020, 6758992, 3265313, 16222668 maternal first cousin of proband (III-10) [537020], case 29 [6758992] monosomy of 7q32-q34; sister (537020_cousin _III-8), maternal first cousin (537020_proband) had same karyotype Edit
92 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
93 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
94 10602362_1_2 46, XY, t(6;7;18)(7pter-> 7q31.3::18p11.21-> 18pter;7qter-> 7q32.1::18p11.21-> 18q21.3::7q31.3-> 7q32.1::6q22-> 6q25::18q21.3-> 18qter) pat small nose, prominent upper lip, prominent philtrum, umbilical hernia, rt. inguinoscrotal hernia, small thorax with thin ribs, single palmar creases, syndactyly between toes IV and V, brachycephaly, myopia, small penis, clinodactyly V, decreased motor skill, ventricular septum defect q32.1       10602362 patient 1 first son of 10602362_4 Edit
95 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
96 11558148 46, XX, der(20)t(7;20)(q32.3;q13.33) de novo West syndrome [diagnosed on EEG], hypertelorism, bifid uvula, long philtrum, dysplastic ears q32.3       11558148   trisomy of 7q32.3-qter Edit
97 7130958 46, XX, del(7)(q33q35) de novo severe mental retardation, growth retardation, microcephaly, facial dysmorphism with prominent forehead, large retroverted ears, mongoloid slant of eyes, bulbous nose with broad prominent base, smooth philtrum, large downturned mouth with thick lips, clitoromegaly, hypoplastic labia minora q33 q35     7130958, 3839444 case 3 [3839444]   Edit
98 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
99 18675947 46,XX,del(7)(q33q36.1)de novo autism, neonatal hypocalcemic seizures, developmental delays, sleep difficulties, speech delay, two seizures at age 16, truncal obesity, coarse facial features, sunken eyes, hypertelorism, large nose, long and pronounced philtrum, large mouth, bilateral preauricular pits, long and slender fingers with proximally placed thumbs, primary amenorrhea, Tanner II breast development, diparesis and truncal ataxia, mild cerebellar hypoplasia, partial agenesis of the corpus callosum q33 q36.1     18675947 proband proximal breakpoint (chr7:137106034) lies in intron 1 of the CREB3L2 gene; distal breakpoint (chr7:149827313) lies within exon 3 of the GIMAP2 gene; ~12 Mb deletion; discussion of CNTNAP2 and NOBOX as candidate genes Edit
100 23201896_1 46,XY,der(13)t(7;13)(q33;q33)mat.arr 7q33-q36.3(136,570,553-158,291,4 40)×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion, hypertonia, undescended testes with hypoplasticscrotum, chordee, hydronephrosis, skeletal malformation but no thumb a-/hypoplasia or microphtalmia q33       23201896   history of neurodevelopment retardation in the father's family Edit
101 23201896_2 46,XY,der(13)t(7;13)(q33;q33)mat.arr 7q33-q36.3(136,570,553-158,291,4 40)×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion, hypertonia, undescended testes with hypoplasticscrotum, chordee, hydronephrosis, skeletal malformation but no thumb a-/hypoplasia or microphtalmia q33 q36.3     23201896   ~22 Mb duplication; history of neurodevelopment retardation in the father's family Edit
102 1757961_3 46, X?, der(7)t(7;20)(q33.2;p13) pat ethmocephaly with proboscis, hypotelorism, absence of nose q33.2       1757961, 8135290 case 3 monosomy of 7q33.2-qter Edit
103 23201896_3 46,XY,der(13)t(7;13)(q33;q33)mat.arr 7q33-q36.3(136,570,553-158,291,4 40)×3 mat,13q33.3-q34(106,404,8 35-114,110,7 21)×1 mat developmental delay, microcephaly, high forehead, micrognathia, epicathal fold, hypertelorism, prominent nose, cowlick posterior hair line, large ears with overfolded helix, prominent incisors and malocclusion, hypertonia, undescended testes with hypoplasticscrotum, chordee, hydronephrosis, skeletal malformation but no thumb a-/hypoplasia or microphtalmia q33.3 q34     23201896   history of neurodevelopment retardation in the father's family Edit
104 6423801 46, XY, del(7)(q34) de novo microphthalmus, large retinal colobomas, microcephaly with widely split cranial sutures, bilateral cleft lip/palate, broad nose, imperforate anus with sacral agenesis, severe mental and physical retardation q34 qter     6423801     Edit
105 6831934 46, XY, del(7)(q34) de novo mental retardation, stenosis of the anus, microcephaly, bulbous nose, large ears, coloboma of the retina, absence of the lower two segments of the sacrum, mild hypospadia q34 qter     6831934, 3055986, 8135290     Edit
106 6430085_1 46, XY, der(7)t(1;7)(q32;q34) pat holoprosencephaly, no nose, fluid filled skull, no midline structures, bilateral hydronephrosis, and hydroureters, cyclopia, stillborn q34       6430085, 8326499 patient 1 (V-28) monosomy of 7q34-qter; related to 6430085_2 Edit
107 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
108 Krger_ESHG2004_1 46, XX, del(7)(q34q36) suspected of cri-du-chat-syndrome at birth, deep infraorbital creases, small nose with anteverted nares, long philtrum, retro-/micrognathia, high palate, short neck, muscular hypertonia q34 q36     case 1 Krger et al., ESHG 2004, P0041 Edit
109 MCN_20020003-059 46, XX, del(7)(q34) de novo mental retardation, agenesis/ hypoplasia of kidneys, coloboma of the eyelid, abnormal hearing, small nose, abnormal dentition, short stature q34 qter     MCN ID: 20020003-059 www.mcndb.org Edit
110 3706408 46, XX, der(7)t(1;7)(q32;q34) mat alobar holoprosencephaly, cyclopia with single orbit, frontal proboscis, absence of nose, small mouth, long chin, absence of labia majora & minora, flexion contractures at both hips, ocerextension of legs at both knees, talipes equinovarus position of both feet, clubfeet, died a few minites after birth q34       3706408, 3055986, 8326499   monosomy of 7q34-qter; mother (IV-6), maternal grand mother (III-2) had balanced t(1;7) [6430085]; first cousin of 6430085_2 Edit
111 Baumann_1980 46, XY, der(7)t(1;7)(q44;q34) mat growth retardation, psychomotor developmental delay, microcephaly, prominent head, short nose with bulbous tip, large dysplastic ears, hydronephrosis, bladder dysfunction, rectal dysfunction, hypospadias q34       3055986, 8135290   monosomy of 7q34-qter; Baumann et al., 1980, Klinische Genetik in der Padiatrie, 2nd Symposium, pp209-213 Edit
112 738736 46, XX, del(7)(q35) de novo growth and developmental delay, frontal bossing, microcephaly, deep-set eyes, bulbuous tip of the nose, large ears q35 qter     738736, 6758992, 8135290 AC07 1975 [738736], case 30 [6758992]   Edit
113 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
114 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
115 MCN_19750001-004 46, XY, t(7;10)(q35;q22) drooping lower lip, thickened gingivae, long/large nose q35       MCN ID: 19750001-004 www.mcndb.org Edit
116 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
117 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
118 8896571_T2 46, XX, t(6;7)(p21;q36) de novo premaxillary agenesis (hypotelorism, flat nose, median cleft palate/lip), sensorineural hearing loss, adontia, cervical cord compression secondary to stenosis, normal brain CT, low-normal intelligence q36   SHH$/ sWSS2571   8896571, 9254845, 16143022 T2   Edit
119 2624261_I-2 46, XX, t(7;9)(q36;q34). ish t(7;9)(D7Z1+, D7S427-, ABL+ ; D9Z1+, ABL-, D7S427+) mild holoprosencephaly, small head, large nose with bulbous tip, telecanthus & downward slant to the eyes, developmental delay, ocular hypertelorism, ear malformations, single central incisor, children with HPE children with HPE q36   LL07NC01-96-well-199b9/ LL07NC01-96-well-190c1   2624261, 1897576, 8896571, 9254845 patient I-2 [2624261], 104, T1 [8896571, 9254845], GM13689 (family 1637, mother) mother of 2624261_II-1, II-2, II-5, II-8; GM13689: lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository Edit
120 2624261_II-1 46, XX, der(7)t(7;9)(q36;q34) mat. ish der(7)t(7;9)(D7Z1+, D7S427-, ABL+) holoprosencephaly, hypotelorism, downward slant to palpebral fissures, large nose with bulbous tip, microdolichocephaly, & large ears; low birth weight; growth & developmental delay; moderate to severe mental retardation; abnormal toes q36   LL07NC01-96-well-199b9/ LL07NC01-96-well-190c1   2624261, 1897576, 8485580, 8135290, 9254845 patient II-1 [2624261], 105 [8485580, 9254845], GM13687 (family 1637, affected sister) monosomy of 7q36-qter; daughter of 2624261_I-2; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
121 DGAP036 46, XY, t(7;9)(q36;q34) mat microcephaly, hypertelorism, down-slanting palpebral fissures, dysmorphic nose, large ears, unspecified midline defects segregating in (familial) carriers of the translocation q36   AC091389   DGAP036 AC091389 (this is a working draft sequence) was split on FISH study; http://www.bwhpathology.org/d gap/ Edit
122 11494289_proband 46, XY. ish der(16)t(7;16)(q36;p13.3) mat speech delay, motor retardation, hypertelorism, broad forehead, broad and flat nose q36       11494289 proband (elder son), first child trisomy of q36-qter Edit
123 11494289_fetus 46, XY, inv(16). ish der(16)t(7;16)(q36;p13.3)inv(16)(p11.2q23.2) mat macrocephaly, delay closure of the fontanel, motor retardation, hypertelorism, broad forehead, broad and flat nose q36       11494289 fetus, second child trisomy of q36-qter Edit
124 8456851 46, XX, t(7;11)(q36;p11) [10]/ 46, XX [24] macrocephaly, large fontanelle, deep-set eyes, short and narrow palpebral fissures, small nose with flat bridge and narrow root, intermittent strabismus q36       8456851, 9779802 proposita   Edit
125 9007318_4 46, XX, der(7)t(3;7)(p23;q36) de novo microcephaly, holoprosencephaly with premaxillary agenesis, orbital hypotelorism, absent premaxilla with cleft lip and palate, flat nose, intraabdominal cystic mass of probable renal origin q36       9007318 case 4 monosomy of 7q36-qter Edit
126 6478645 46, XY, der(7)t(7;14)(q36;q24) mat growth retardation, developmental retardation, low birth weight, failure to thrive, feeble cry, hypertelorism, abnormal shape of the skull, Mongolian slant of the palpebral fissures, coloboma of choroidea and papilla in the left eye, prominent nose, narrow palate, micrognathia, low-set posteriorly-rotated ears q36       6478645, 8135290   monosomy of 7q36-qter; healthy mother had balanced t(7;14) Edit
127 939567_1 46, XX, der(7)t(4;7)(p12;q36) pat psychomotor developmental retardation, mental retardation, speech delay, dysmorphic features, microcephaly, asymmetric face, prominent forehead, bulbous nose with a broad, depressed root, extremely elongated chin, retrognathia, short neck q36       939567, 8135290 case 1 (III-13) monosomy of 7q36-qter; father (II-7) had balanced t(4;7); cousin of 939567_2 Edit
128 6418421_IV-2 46, XY, der(7)t(4;7)(p12;q36) mat? growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, seizures, hyperactivity and aggressive behaviour, hypospadias q36       6418421, 8135290 patient IV-2 monosomy of 7q36-qter; brother of 6418241_IV-3, second cousin of 6418241_IV-4 and 6418241_IV-1; mother was considered to have balanced t(4;7) by pedigree Edit
129 6418421_IV-3 46, XY, der(7)t(4;7)(p12;q36) mat? growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, seizures, hyperactivity q36       6418421, 8135290 patient IV-3 monosomy of 7q36-qter; brother of 6418241_IV-2, second cousin of 6418241_IV-4 and 6418241_IV-1; mother was considered to have balanced t(4;7) by pedigree Edit
130 6418421_IV-4 46, XY, der(7)t(4;7)(p12;q36) mat growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, microcephaly, bilateral rocker bottom feet, malformed auricles, cryptorchidism q36       6418421, 8135290 patient IV-4 monosomy of 7q36-qter; second cousin of 6418241_IV-2, 6418241_IV-3 and 6418241_IV-1; mother and maternal grandmother had balanced t(4;7) Edit
131 6418241_IV-1 46, XY, der(7)t(4;7)(p12;q36) mat growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, microcephaly, bilateral rocker bottom feet, malformed auricles, hypospadias q36       6418421, 8135290 patient IV-1 monosomy of 7q36-qter; second cousin of 6418241_IV-2, 6418241_IV-3 and 6418241_IV-4; mother had balanced t(4;7) Edit
132 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
133 15083705 46, XX, dup(7)(q36->qter) de novo mild psychomotor retardation, language delay, relative macrocephaly, prominent frontal bossing, small nose, joint hypermobility, short 5th finger with clinodactyly, EEG anomalies q36 qter     15083705 M.G.   Edit
134 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
135 Pappas_ASHG2005_2 46, XY, der(7)t(7;8)(q36;q24.3) [detected by FISH] born small for gestational age, short stature, poor weight gain, microcephaly, torticollis, facial asymmetry, short upslanting palpebral fissures, broad tip of the nose, malar hypoplasia, down-turned corner of the mouth, bilateral cutaneous syndactyly between III - IV fingers and III - IV toes q36       case 2 monosomy of 7q36-qter; Pappas et al., ASHG 2005, Program #599 Edit
136 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
137 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
138 10852374 46, XY, der(7)t(2;7)(p23.2;q36.1) pat holoprosencepahly, bilateral cleft lip, broad nose with single nostril, sacral anomalies, situs ambiguus, ambiguous genitalia, died 20 min after birth q36.1   D7S2398/ D7S2465   10852374 infant monosomy of 7q36.1-qter; father had balanced t(2;7) Edit
139 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
140 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
141 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
142 Pappas_ASHG2005_1 46, XX, del(7)(q36.2) [detected by FISH] microcephaly, growth retardation, GE reflux, mental retardation, hypertelorism, midface hypoplasia, malar hypoplasia, absent incisors, midline cleft palate, broad tip of the nose q36.2 qter     case 1 Pappas et al., ASHG 2005, Program #599 Edit
143 10353788_14 del(7)(q36.3) de novo [detected by microsatellite analysis] severe developmental delay, hyperextensible fingers with fingertip pads & blunting of the finger tips, prominent & bulbous nose, flat malar bones, prominent lips, large mouth with small chin; failure to thrive at 6 months of age q36.3 qter D7S2465/ D7S594   10353788 family 14 deletion arising on maternal chromosome; mother was healthy, but two of her three brothers had open spina bifida (one died at 4 months of age, and the other had surgery) and sone only sister had spina bifida occulta Edit
144 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
145 24334122_1 46,XY,der(7)t(7;21(q36.3;q22.13)),a rr7q36.3(156,881,580-1,159,118,5 07)x1, 21q22.13q22.3(37,871,7 79)x2 23,788,053 × 3 48,090,258 × 3) [hg19] mild Down syndrome, left eye keratoconus, microcephaly, macroglossia, gothic palatum, maxillary hypoplasia, moderate micrognathia, bulbous nose, prominent earswith auricle abnormalities, low posterior hairline, broad thumbs,clinodactyly, metatarsus adductus and clinodactyly of toes q36.3 q36.3     24334122   ~2.2Mb deletion Edit
146 24334122_2 46,XY,der(7)t(7;21(q36.3;q22.13)),a rr7q36.3(156,881,580-1,159,118,5 07)x1, 21q22.13q22.3(37,871,7 79)x2 23,788,053 × 3 48,090,258 × 3) [hg19] mild Down syndrome, left eye keratoconus, microcephaly, macroglossia, gothic palatum, maxillary hypoplasia, moderate micrognathia, bulbous nose, prominent earswith auricle abnormalities, low posterior hairline, broad thumbs,clinodactyly, metatarsus adductus and clinodactyly of toes q36.3       24334122     Edit
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