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 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
3 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
4 MCN_19870001-248 46, XY, t(6;7)(q22.32;p15.1) macrocephaly, mental retardation, anodontia/oligodontia, frontal bossing, large mouth/macrostoma/l ateral cleft, lnguinal hernia p15.1       MCN ID:19870001-248 www.mcndb.org Edit
5 MCN_19990007-227 46, XX .rev ish dim(7p15p15) de novo small hand, abnormal ear shape/structure, hypertelorism, frontal bossing, short foot (including brachydactyly), large fontanelle, retroverted ears, other clinodactyly of fingers, low set ears p15 p15     MCN ID: 19990007-227 www.mcndb.org Edit
6 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
7 2486209_1 46, XY, del(7)(q11.22q21.11) de novo mental retardation, developmental delay, frontal bossing, brachycephaly, muscle wasting in the pelvic region, seizures q11.22 q21.11     2486209, 1456281, 15692208 case 1 [2486209], case 7 [1456281]   Edit
8 MCN_20000001-133 46, XX, t(1;7)(q21.3;q11.23) mat facies significantly abnormal, mental retardation, speech defect, frontal bossing, talipes - varus/valgus, anteverted/prominent/b at ears, ear cartilage deficiency, behaviour disorder/hyperactivity/p sychosis q11.23       MCN ID: 20000001-133 www.mcndb.org Edit
9 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
10 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32     458833, 7228036, 6758992, 7154049, 3879441, 2301476, 11045577 case 1 [458833], case 11 [6758992], ref. 4 [7154049], ref. F [ 2301476]   Edit
11 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
12 24341144 46,XY, dup(7)(q21q22.2).ish dup(7)(q21 q22.2)(wcp7+, ELN+, D7S2686++, D7S486+)dn mental disability, marked speech delay, mild short stature, frontal bossing, and mild dysmorphisms q21 q22.2     24341144 propositus   Edit
13 17163539_1 46, XY, dup(7)(q21.1q31.3) [90]/ 46, XY, del(7)(q21.1q31.3) [10] [lymphocytes; after birth]
46, XY, dup(7)(q21.1q31.3) de novo [100] [lymphocytes & epithelial cells;12 months of age]
psychomotor retardation, hypotonia, asymmetric skull with triangular face, frontal bossing, flat and asymmetric occiput, short neck, epicanthic folds, strabismus, low-set ears q21.1 q31.3 RP11-388L11/ RP11-791J18 RP11-105B19/ RP11-447A2 17163539     Edit
14 17163539_2 46, XY, dup(7)(q21.1q31.3) [90]/ 46, XY, del(7)(q21.1q31.3) [10] [lymphocytes; after birth]
46, XY, dup(7)(q21.1q31.3) de novo [100] [lymphocytes & epithelial cells;12 months of age]
psychomotor retardation, hypotonia, asymmetric skull with triangular face, frontal bossing, flat and asymmetric occiput, short neck, epicanthic folds, strabismus, low-set ears q21.1 q31.3     17163539     Edit
15 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
16 19401716_1 46,XX,del(7)(q21.13q22.1)de novo.arr 7q21.13q22.1(89,870,000-98,520,0 00)x1 intra-uterinegrowth retardation, split hand/foot malformation, frontal bossing, micrognathia, small dysplastic ears, long philtrum, congenital deafness due to aplasia of the cochlear nerves q21.13 q22.1     19401716 Patient 1 ~8.66Mb deletion, DLX5, DLX6 and DSS1 genes deleted Edit
17 11078569 46, XX, dup(7)(q22q31.3) de novo growth and pyschomotor retardation, microcephaly, frontal bossing, high arched and narrow palate, hirsutism q22 q31.3     11078569 HB   Edit
18 4438062_proposant 46, XY, t(5;7;17)(q31;q22q31;p13) [inferred: der(5)(5pter-> 5q31:), der(17)(17qter->17p13::7q22-> 7q31 or 7q31-> 7q22::5q31-> 5qter)] hypotonia, psychomotor retardation, frontal and parietal bossing, hypertelorism, epicanthus, convergent strabismus, gross tongue, prognathism, strabismus q22 q31     4438062, 7390476 proposant, G.F. [4438062], case 6 [7390476] trisomy of 7q22-q31 Edit
19 8135285 46, XY, dup(7)(q22q34) de novo autism, growth and mental retardation, developmental delay, no speech, frontal and parietal bossing, deep-set eyes, starbismus, bilateral optic nerve hypoplasia, mild dilatation of the cerebral ventricles q22.3 q35 RP11-361C14/ RP11-89M2 RP4-669B10/ RP11-79M8 8135285, 11531975, 12818530 26294 [unpublished] molecular data unpublished Edit
20 4757516_CH 46, XX, der(21)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis q31       4757516, 4438062, 1084120 propositus, C.H. trisomy of 7q31-qter; son of 4757516_father, sibling of 4757516_fetus Edit
21 4757516_fetus 46, XY, der(7)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis q31       4757516, 537019, 7390476, 6758992 fetus [4757516], case 6 [537019], case 11 [7390476], case 14 [6758992] monosomy of 7q31-qter; son of 4757516_father, sibling of 4757516_CH Edit
22 MCN_19990002-004 46, XX, t(3;7)(q13.3;q31) mat et pat brachydactyly, square face, GH-deficiency, frontal bossing, prognathism, low set ears, short stature - postnatal q31       MCN ID: 19990002-004 www.mcndb.org Edit
23 830447_propositus 46, XX, der(9)t(7;9)(q31;p24) mat dysmorphism, abnormal cranial shape, porminent occiput, frontal bossing, microretrognathia, low-set ears, systolic murmur due to a patent ductus arteriosus, bilateral cerebral ventricular dilatation, bilateral ureteral dilatation, absence of both 12th ribs, pyschomotor retardation q31       830447 propositus CD (IV-7) trisomy of 7q31-qter Edit
24 912940_2 46, XY, del(7)(q32) de novo frontal bossing, large ear lobules, anteverted nostrils, large mouth, small scrotum and penis, increased deep tendon reflexes, bilateral sidtal axial triradius, mental retardation q32 qter     912940, 631854, 537019, 6758992, 8135290 case 2 (M.J.) [912940], case 9 [537019], case 18 [6758992] previously reported in Dinno et al., 1976, Birth Defects Conference, National Foundation/M arch of Dimes, p. 213, and Dinno et al., 1977, Birth Defects: Original Article Series. 1977; 13(3C):288-229 Edit
25 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
26 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
27 15834588_1 46, XX, t(7;10)(q33;q23) de novo [microdeletion del(7)(q34q35) detected by FISH] Rett syndromeCowden syndrome; developmental delay, macrocephaly, kyphoscoliosis; hypotonia, feeding problems, recurrent infections, speech delay, frontal bossing, large eyes with downslanting palpebral fissures, slight pectus q33   RP11-209G24   15834588   same case as 15834588_2; translocation breakpoint lies in intron 11 of SEC8LI Edit
28 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
29 15834588_2 46, XX, t(7;10)(q33;q23) de novo [microdeletion del(7)(q34q35) detected by FISH] Rett syndromeCowden syndrome; developmental delay, macrocephaly, kyphoscoliosis; hypotonia, feeding problems, recurrent infections, speech delay, frontal bossing, large eyes with downslanting palpebral fissures, slight pectus q34 q35 PTN TPK1$ 15834588   same case as 15834588_1; 7 Mb deletion: proximal breakpoint was mapped between exon 1 and exon 5 of PIN gene, and distal breakpoint lies within intron 8 of TPK1 gene Edit
30 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
31 1583663 46, XY, dir dup(7)(q36qter) de novo developmental delay, speech delay, macrocrania, constant drooling, frontal bossing q36 qter     1583663, 10951456, 11531975, 12407716, 12818530     Edit
32 MCN_19920001-029 46, XX, t(4;7)(q13;q36) de novo mental retardation, frontal bossing, irregularities of length/shape of fingers q36       MCN ID:19920001-029 www.mcndb.org Edit
33 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
34 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
35 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