The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- DUPLICATIONS (Non Malignant)

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 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
2 24311514 4?,XX.arr 7p22.3 (2,194,515–2,319,8 39)x3 [hg19] developmental delay, hypotonia, tetralogy of Fallot, microcephaly, nonverbal p22.3 p22.3     24311514   ~125 kb duplication including FTSJ2 and NUDT1 genes and partially including MAD1L1 and SNX8 genes; discussion of SNX8 as candidate gene Edit
3 23765050_28 46,X?.arr 7p22.2p21.3(3,612,717-8,278,5 10)x3 autism p22.2 p21.3     23765050 Subject 28 ~4.67 Mb duplication includes FOXK1 Edit
4 9007337 46, XY, dir dup (7)(p21.2p22.1) de novo supravalvular pulmonary stenosis, atrial septum defect, mental retardation p22.1 p21.2     9007337, 10494083 case 44 [10494083]   Edit
5 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
6 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
7 21302340_15 4?,XY.arr 7p22.1(5,100,000–6,500,0 00)x3 de novo syndromic ASD p22.1 p22.1     21302340 case 15 ~1.4Mb duplication encompasses SLC29A4; NCBI build 36.1 Edit
8 23765050_14 46,X?.arr 5q22.2(112,270,214-112,315,4 53)x1,7p22.1(4,735,218-4,908,0 23)x3 [hg18] autism p22.1 p22.1     23765050 Subject 14 ~200 kb duplication includes RADIL, PAPOLB, FOXK1, KIAA0415 Edit
9 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
10 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
11 11992485_2 46, XY, dup(7)(?p15.3?p22) mat hypertelorism, constipation, hypotonia, high palate, atrial septal defect, tethered penis p22 p15.3     11992485 patient 2 son of 11992485_1 Edit
12 3879442 46, XX, dup(7)(p13p22) de novo [82%]/ 46, XX [18%] developmental delay, dolichocephaly, ocular hypertelorism, high arched palate, retrognathia p22 p13     3879442, 9297445, 10494083 case 4 [9297445], case 11 [10494083]   Edit
13 23871472_8036-1 4?,X?.arr 7p22 (52,899-?)x3 schizophrenia p22 p22     23871472 8036-1 ~3.26 Mb duplication Edit
14 7888144 46, XX, dup(7)(p15.1p21.3) de novo discrete facial dysmorphism, borderline intelligence, clumsy motor development p21.3 p15.1     7888144, 10494083, 11562935 G.E. [7888144], case 31 [10494083]   Edit
15 21480499_0100 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] autism, language problems, developmental delay, sensory problems, hyperactivity, large head circumference, intellectual disability p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0100, maternal cousin of 0101 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
16 21480499_0101 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] ASD, ADHD, depressive disorder, reading disability, dental misalignment, articulation and oral motor problems, awkward gait, overly acute hearing p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0101, maternal cousin of 0100 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
17 19597493_2102 arr 7p21.3(8,900,139-9,091,0 44)X3 de novo Tetralogy of Fallot p21.3 p21.3     19597493 2102 ~190Kb duplication, NCBI Build 36.1 Edit
18 19328872_7 46,XY.arr (7p21.3)x3 pat.arr (15q11.2)x1 pat complex congenital heart defect, hypoplastic right ventricle, atretic pulmonary valve p21.3 p21.3     19328872 case 7   Edit
19 2363431 46, XY, dir dup(7)(p21.2p14.2) de novo moderate developmental retardation, unusual dermatoglyphics, highly arched palate, small penis p21.2 p14.2     2363431, 8839888, 9297445, 10494083, 11562935 Ref. 5 [8839888], case 6 [9297445], case 16 [10494083]   Edit
20 9475103_1 46, XX, trp(7)(p21p22) de novo. ish trp(7)(p22p21)(wcp7+, c109A6+, D7S517+++, D7S513+++, D7Z1+) [der(7)(qter-> p22::p21.3-> p21.2::p15-> p22::p22->p ter)] growth and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p21.2 p22.3     9475103, 10494083 case 30 [10494083] triprication of p21.2-p22.3 Edit
21 539602_2 46, XY, rec(7)dup(7)(p15p21)ins(7)(q22p15p21) mat severe mental deficiency, psychomotor retardation, hydrocephalus p21 p15     539602, 2679090, 2363431, 8839888, 10494083 patient 2 (II-7, uncle) [539602], Ref. 13 [8839888], case 18 [10494083] duplication of 7p15-p21; uncle of 539602_1, brother of 539602_mother Edit
22 9475103_2 46, XX, trp(7)(p21p22) de novo. ish trp(7)(p22p21)(wcp7+, c109A6+, D7S517+++, D7S513+++, D7Z1+) [der(7)(qter-> p22::p21.3-> p21.2::p15-> p22::p22->pter)] growth and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p15 p22   D7S517 9475103, 10494083 case 30 [10494083] triplication of p15-p22 Edit
23 10987657_1 46, XX, dup(7)(p13p12.1) mat. ish dup(7)(946H08+, 810G02++, 896D09+) Russell-Silver syndrome p14.1 p12.1 AC004934/ AC005026 GRB10/ EGFR$ 10987657, 12384779 case 1 (LB) daughter of 10987657_2; molecular cytogenetic data is not consistent with karyotype Edit
24 10987657_2 46, XX, dup(7)(p13p12.1) de novo. ish dup(7)(946H08+, 810G02++, 896D09+) Russell-Silver syndrome p14.1 p12.1 AC004934/ AC005026 GRB10/ EGFR$ 10987657 case 2 (TB); ECACC No. 102801 (cell line: MD0003) mother of 10987657_1; www.ecacc.org.uk; molecular cytogenetic data is not consistent with karyotype Edit
25 12384779_HC/AC 46, XY, dup(7)(p11.2p13)/ 46, XY Post-natal growth retardation p14.1 p11.2 D7S1935/ sWSS2750 D7S1618/ D7Z2 12384779 HC/AC mother also had mosaic duplication; molecular cytogenetic data is not consistent with karyotype Edit
26 11353439 46, XY, ?dup(7)(p14.1p11.2) de novo autistic disorder, bilateral clinodactyly and short tapered fingers p14.1 p11.2     11353439, 11733747 REF. 98 [11733747]   Edit
27 22183494_2 arr 7p14.1(38,285,500–38,302,7 25)x3 [hg18] Dupuytren’s disease p14.1 p14.1     22183494 7 out of 8 cases ~17,225 kb duplication Edit
28 5489883 46, XX, inv(2)(p25q13), dup(7)(p13p14) de novo intentional tremor of extremities, congenital heart defect, congenital luxation of left hip, shortened left hip, very small stature, microcephaly, hypertelorism, mental retardation p14 p13     5489883, 4130027, 2679090, 2363431, 8839888, 9297445, 10494083 proposita (JP111153 ) [5489883], case 2 [9297445], case 12 [10494083]   Edit
29 7542835 46, XX, dup(7)(p13p12.2) mat developmental delay, failure to thrive p13 p12.2     7542835, 10494083 proposita (III-1) [7542835], case 10 [10494083] mother (II-2, IQ=65), maternal grandmother (I-2, mental retardation suspected), brother (III-3, delayed speech and history of balance problems) had same inverted duplication Edit
30 10449919_EL_1 46, XY, dup(7)(p11.2p13) de novo [14]/ 46, XY, del(7)(p11.2p13) de novo [5]/ 46, XY [17] ultrasound showed choroid plexus cyst and echogenic bowel p13 p11.2     10449919 EL   Edit
31 10631135 46, XX, dup(7)(p11.2p13) de novo Russell-Silver syndrome p13 p11.2 AC004988 GRB10/ EGFR$ 10631135, 12384779, 11829489 DP [10631135, 12384779], patient 4 [11829489]; ECACC No. 1082320 (cell line: NB0001) www.ecacc.org.uk Edit
32 21302340_28 4?,XY.arr 7p12.1(51,621,194–53,629,6 84)x3,10p11.21(35,391,930–35,5 37,418)x3 pat ASD, mental retardation p12.1 p12.1     21302340 case 28 ~2Mb duplication encompasses DKFZp564N2472; NCBI build 36.1 Edit
33 18406869_B1_2 47~50,X,−X,+6,+ der(7)t(7;8)(p1?1.2;q11.2),+9,+ 10,+12,der(16)t(1;16)(q1?1;q1?2.1)[cp12]/5 1~55,X,−X,+6,+i(7)(q10),i (8)(q10),+9,+10,+12,d er(16)t(1;16)(q1?1;q1?2.1)[cp2]/4 6,XX[12].arr(1q21)x3,( 7p12qter)x3,( 8p11.2qter)x3(16q12.1)x1 Wilms tumor, Mulibrey nanism syndrome p12 qter     18406869 B1   Edit
34 22987336 46,XY.arr 7p12 (47,034,222-52,175,6 39)x3 de novo [hg19] postnatal overgrowth, developmental delay, microcephaly, seizures, hypopigmented macules, large ears p12 p12     22987336   5.1 Mb duplication; discussion of GRB10 as candidate gene Edit
35 17551927 46,XX,dup(7)(p11.2p12)mat mild cognitive deficiency, history of spontaneous abortion p11.2 p12     17551927 proband patients mother and son have the same karyotype both with mild cognitive deficiency, GRB10 locus is not duplicated Edit
36 Bartley_ACMG2009_1 arr (7p11.2)x3 Potocki-Lupski syndrome, hypospadius, developmental delay p11.2 p11.2       Bartley et al., ACMG2009, Program #239 Edit
37 Unpublished_49 4?, XX, dup(7) phenotype not given pter qter     49 data unpublished Edit
38 7173858_1 45, XX, dup(7)(p21->pter) de novo, t(14;21)(p11;q11) pat developmental delay, hypotonia, left kidney enlargement with focal gromerulosclerosis and malrotation, thymic enlargement, bilateral calcaneovalgus, no speech pter p21     7173858, 2679090, 2692511, 2363431, 9297445, 10494083, 12818527 case 1 (S.M.) [7173858], case 14 [2692511], case 3 [9297445], case 35 [10494083] father had 45,XY,t(11;21)(p11;q11) (Robertsonian translocation) Edit
39 1863992_proband_1 46, XX, rec(7)dup(7p)inv(7)(p15.1q36) mat hydrocephalus, bilateral talipes equinovarus, bilateral inguinal herniae, severe constipation, intraspinal cyst, frequent sinusitis and otitis media, seizures, severe developmental retardation pter p15.1     1863992, 10494083 proband (III-6) [1863992], case 32 [10494083] duplication of 7p15.1-pter & deletion of 7q36-qter; daughter of 1863992_mother Edit
40 Unpublished_28_2 46, XX, der(7)(pter->q36::p15->pter)mat holoprosencephaly, sacracoccygeal teratoma pter p15     28 data unpublished Edit
41 2679090_2 46, XY, dup(7)(p14.2-pter) low-set ears, atrial septal defect, cerebral polymicrgyria pter p14.2     2679090, 8839888 patient 2 [2679090], Ref. 14 [8839888]   Edit
42 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
43 2692511 46, XY, dup(7)(p11.2pter) de novo dolichocephaly, hypertelorism, microphthalmos, cataract, microstomia, rectus diastasis, omphalocele, small penis, cryptorchidism, no speech pter p11.2     2692511, 9297445, 10494083 case 5 [9297445], case 7 [10494083]   Edit
44 9297445 46, XX, dup(7)(p11.2-pter) de novo multiple congenital anomalies, micrognathia, psychomotor retardation pter p11.2     9297445, 10494083 case 8 [10494083]   Edit
45 Pearson_A319 46, XY, dup(7)(p11-pter) large anterior fontanelle, hypertelorism, downslanting palpebral fissures, high arched palate, micrognathia, lowset ears, congenital heart defect, cryptorchidism, hypospadias, postaxial polydactyly, syndactyly, clinodactyly, absent toenails pter p11       Pearson et al, abstract, A319 Edit
46 2309771_familyG_infant_2 46, XX, rec(7)del(7q)inv(7)(p22.1q34) de novo [inferred, not karyotyped] alobar holoprosencephaly, cebocephaly, bilateral megaureter, hydronephrosis, hypoplasia of the left kidney and adrenal glands, club foot pter p22.1     2309771, 8326499 family G,infant born at 34 weeks monosomy of 7q34-qter, and trisomy of 7p22.1-pter; infant of 2309771_familyG_mother Edit
47 2002483_proband_1 46, XY, rec(7)dup(7p)inv(7)(p15q36) mat facial dysmorphic features, microcephaly, hypoplasia of the external genitalia, intestinal malrotation, congenital heart defect, minor limb abnormalities pter p15     2002483, 10494083 proband [2002483], case 26 [10494083] trisomy of 7p15-pter and monosomy of 7q36-qter; son of 2002483_mother Edit
48 5301761 46, XX, Cp+ [dup(7p) or add(7)(p?) inferred]/ 46, XX developmental delay, micrognathia, large low-set ears, hyperflexibility of fingers, prevalence of digital whorl patterns, high absolute ridge count, VSD pter p10     5301761, 5314802, 7083611, 2679090, 2692511, 2363431, 8839888, 9297445 case 5 [2692511], Ref. 7 [8839888], case 1 [9297445] trisomy of 7p13-pter? Edit
49 15108196_9 rev ish enh(7p22pter) [detected by HR-CGH], del(4)(ptel)(D4S3360x1), dup(7)(ptel)(G3141x3) [detected by FISH] de novo mental retardation, dysmorphic features pter p22     15108196 case 9   Edit
50 BURNS_ASHG1989_1 46, XY, rec(7)dup(7p)inv(7)(p21.1q36) mat VATER syndrome, hydronephrosis, hypoplastic lungs, club feet, hypospadias, cryptorchidism, coneal opacification, atrophic thymus pter p21.1     two brothers trisomy of 7p21.1-pter & monosomy of 7q36-qter; mother had inv(7); trisomy of Burns et al., 1989, Am J Hum Genet 45: A72 Edit
51 16758186 46, XX, dup(7p) de novo abnormally wide anterior fontanelle, stippling in the greater trochanters, bilateral mild clinodactyly of III & V toes; died 10 days after birth pter cen     16758186     Edit
52 Sezgin_ESHG2006 46, XX, dup(7)(pter) mat abnormal anxiety, congenital heart disease, behavioural disturbance, partial simian line in both palms, movement difficulties, low IQ (60 percentage) pter pter       Sezgin et al., ESHG, 2006, P0062 Edit
53 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
54 18558289_4_1 4?, XX [+2q24~q31,+7p,+ 7q21, +7q32~qter, -10q23, +12p, +17q11.2~q12 detected by microarray] cutaneous T-cell lymphoma, Sezary syndrome pter cen     Case 4   Edit
55 19647853_5_1 4?,XX.arr 7p15.2(1-25,996,000)x3,7 q21.3q31.31(93,033,000-119,835,0 00)x3,7q11.21q11.23(61,960,0 00-74,706,000)x1,7 q31.31q33(119,981,000-136,810,0 00)x1 Splenic marginal zone B-cell lymphoma, hepatitis C virus infection, progressivechemotherapy-refractory disease, hyperleukocytosisand aggressive disease pter p15.2     19647853 UPN 5 NCBI build 35 Edit
56 22795105_1 46,XY,der(2)t(2;7)(q36.2;p15.1)mat.arr 2q37.1qter(234,602,276-243,041,3 05)x1,7p15.3pter(65,558-22,869,3 38)x3,16p13.11(14,968,855-16,2 92,235)x3 bilateral ventriculomegaly, agenesis of corpus callosum, polydactyly of right hand, thin upper lip with thick lower lip, large anterior fontanelle pter p15.3     22795105 aborted fetus ~22.8 Mb, advanced maternal age Edit
57 648175 46, XY, dup(7q) de novo multiple congenital anomalies, systolic heart murmur, bilateral cryptorchidism, mental retardation q10 qter     648175, 12407716     Edit
58 Unpublished_9175_2 46, XX, del(7)(q32q34?), dup(7q) autism, partial sacral agenesis, tethered cord, lipoma of the conus, rectal duplication cyst, bifid clitoris, single upper incisor, bilateral sensorineural hearing loss, developmental delay, bilateral simian creases q10 qter     9175 data unpublished Edit
59 6655677 46, XY, dup(7)(q11q22) de novo growth delay, developmental delay, prominent metopic suture, enophthalmos, high arched palate, genitourinary anomalies q11 q22     6655677, 12407716, 8602998, 12818530, 11531975     Edit
60 Berg_ASHG2006_3 46, X?, dup(7)(q11q11.23) [20%]/ 46, X? [80%] severe language delay, dysmorphic features q11 q11.23     two siblings duplication > 10Mb in size, first indentified by array CGH and confirmed by FISH Edit
61 2012130_23 46, XY, dup(7)(q11.1q11.2) features suggestive of chromosomal rearrangements or multiple malformations, and developmental delay? q11.1 q11.2     2012130 23rd case from top in Table III   Edit
62 Vekemans_ASHG1982 46, XY, dup(7)(q11.2q22) de novo Robin anomalad, severe microretrognathia, glossoptosis and cleft of the secondary palate, absence of geniourinary malformation q11.2 q22     11531975   Vekemans et al., 1982, Am J Hum Genet 34: A148, abstract #416 Edit
63 22848183 4?,XY. arr (7q11.21q11.22)x3 acute schizophrenia-like psychotic disorder, paranoid psychotic symptoms q11.21 q11.22     22848183 Patient C 1.1 Mb gain Edit
64 Bartley_ACMG2009_2 46, XY.arr (7q11.21q11.23)x3 mat mild mental retardation, microcephaly q11.21 q11.23     son of Bartley_ACMG2009_3 Bartley et al., ACMG2009, Program #239 Edit
65 Bartley_ACMG2009_3 46, XY.arr (7q11.21q11.23)x3 mild mental retardation, microcephaly q11.21 q11.23     mother of Bartley_ACMG2009_2 Bartley et al., ACMG2009, Program #239 Edit
66 18406869_A7_2 arr 2q37.1(230,837,000-233,294,0 00)x1,7pterp11.2(100-54,057,0 00)x1,7q11.21qter(62,015,0 00-158,821,000)x3,18q21.1(42,2 47,000-42,414,0 00)x3 Wilms tumor, Robinow syndrome q11.21 qter RP11-45N18   18406869 A7 ~97Mb gain Edit
67 7160842_2 46, XX, dup(7)(q11.22q11.23)inv(7)(q11.23q22) mat huge head, left sided anopththalmia, high arched palate, excessive hydrocephalus with almost inappreciable brain substance, genital anomalies q11.22 q11.23     7160842, 6392555, 3491573, 3546078, 7717416, 11531975 N.S. [7160842], ref. 21 6392555] mother had inv(7) Edit
68 Seo_ASHG2004 46, XY, dup(7)(q11.22q21.2) de novo developmental delay, hypotonia, speech delay, low-set ears, very small mouth q11.22 q21.2 RP11-458F8/ RP11-325K1 RP11-665O4/ RP11-126A20 21823 Seo et al., ASHG 2004, Program #731 Edit
69 19246517_AUT96 46,XY.arr 3q21.3(131,845,264-131,974,3 45)x3,7q11.22(69,630,362-69,9 55,721)x3 autism, severe mental retardation, aggressive behaviour, occasional self-injurious behavior q11.22 q11.22   RP11-575M4 19246517 AUT96 ~325.3kb duplication includes AUTS2 Edit
70 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
71 3615363 46, XY, dup(7)(7qter-> p22.3::7q11.23-> qter) de novo [35-70%]/ 46, XY no gross abnormalities found q11.23 qter     3615363 aborted fetus   Edit
72 16236740_1 46, XY, dup(7)(q11.23q11.23) de novo [invisible] growth & developmental delay, severe expressive-language delay, ADHD, mild dysmorphic features (no facial features of Williams syndrome) q11.23 q11.23 RP11-396K3 RP11-813J7 16236740, 17075606 patient 1 sister had ADHD but no duplication; BAZ1B, LIMK1, WBSCR1, RFC2, and GTF2I showed increased expression; cell line # 27166 Edit
73 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
74 16391556_2 46, XY, dup(7)(q11.23q11.23) mat [detected by MLPA] synostosis of the sutura lamboida and the sutura coronalis, facial asymmetry, severe heart malformation (two VSDs, (sub)valvular pulmonar stenosis), finger-like thumb q11.23 q11.23 CALN1/ FKBP6 FKBP6/ FZD9 16391556, 17075606 case 2 unaffected mother and maternal grandmother had same duplication Edit
75 Berg_ASHG2006_1 dup(7)(q11.23q11.23) severe language delay q11.23 q11.23     two patients dup(7) of classical WBS critical region, first indentified by array CGH and confirmed by FISH; Berg at al., ASHG 2006, Program # 86 Edit
76 Berg_ASHG2006_2_1 47, XXY, r(7) [33%]/ 47, XXY [67%] severe language delay q11.23 q11.23       r(7) contains material from 7q11.23; duplication was indentified by array CGH and confirmed by FISH Edit
77 17075606 46, XX [dup(7)(q11.23q11.23) de novo detected by array CGH] psychomotor development delay, mild to moderate mental retardation, severe speech dyspraxia, short stature, right cubitus valgus, club feet, hip dysplasia, round face with stocky & short neck, low-set posteriorly rotated ears, short philtrum, thin lips q11.23 q11.23 Williams_Duplicon_1 Williams_Duplicon_2 17075606     Edit
78 17400790 46,XY, dup(7)(q11.23q11.23) de novo [detected by qPCR] autistic disorder, severe speech impairment, mental retardation, hypersensitivity to noise, mild dysmorphic features, delayed motor acquisitions q11.23 q11.23 D7S672/ FKBP6 GTF2I/ HIP1 17400790 17400790 de novo and of paternal origin Edit
79 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
80 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
81 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
82 19625284_4 46,XX.arr 7q11.23(72,200,000-73,767,5 23)x3 autistic disorder, moderate intellectual disability, craniofacial dysmorphisms, systemic congenital anomalies q11.23 q11.23     Subject 4 ~1.5 Mb duplication, discussion of GTF21 & STX1A as candidate genes Edit
83 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
84 23871472_8015-2 4?,XY.arr 7q11.23 (72,394,271-73,774,4 09)x3 de novo schizophrenia, speech and motor delay, OCD, eating disorder, tics in arms and neck q11.23 q11.23     23871472 8015-2 ~1.38 Mb duplication Edit
85 23871472_8935-3 4?,XX.arr 7q11.23 (72,337,520-73,779,4 30)x3 schizophrenia, delayed developmental milestones, OCD, eating disorder, severe social anxiety q11.23 q11.23     23871472 8935-3 ~1.44 Mb duplication Edit
86 23871472_2134-1 4?,XY.arr 7q11.23 (72,390,286-76,445,2 31)x3 de novo schizophrenia, speech delay, ADHD q11.23 q11.23     23871472 2134-1 ~4.05 Mb duplication Edit
87 23871472_62586 4?,XY.arr 7q11.23 (72,394,271-73,780,0 40)x3 schizophrenia q11.23 q11.23     23871472 62586 ~1.38 Mb duplication; family history for schizophrenia Edit
88 23871472_50311 4?,XY.arr 7q11.23 (72,337,532-73,780,0 40)x3 schizophrenia, hypertension, alcohol dependence; depressive disorder NOS q11.23 q11.23     23871472 50311 ~1.44 Mb duplication Edit
89 23871472_38059 4?,XX.arr 7q11.23 (72,337,520-73,779,4 30)x3 schizoaffective disorder, depressive type, ADHD q11.23 q11.23     23871472 38059 ~1.44 Mb duplication Edit
90 23871472_28105 4?,XY.arr 7q11.23 (73,185,671-75,279,7 30)x3 schizophrenia, diabetes, bronchitis, dongestive heart failure. “dropped on head at birth” q11.23 q11.23     23871472 28105 ~2.09 Mb duplication Edit
91 23871472_3156 4?,XX.arr 7q11.23 (72,369,577-73,774,2 56)x3 schizophrenia/s chizoaffective, bipolar disorder q11.23 q11.23     23871472 3156 ~1.40 Mb duplication Edit
92 23871472_03C18299 4?,XY.arr 7q11.23 (72,393,457-73,927,8 65)x3 schizophrenia q11.23 q11.23     23871472 03C18299 ~1.53 Mb duplication Edit
93 23871472_Sweden_1 4?,XY.arr 7q11.23 (72,380,117-73,776,5 39)x3 schizophrenia, paranoid type q11.23 q11.23     23871472 Sweden_1 ~1.40 Mb duplication Edit
94 23871472_Sweden_2 4?,XY.arr 7q11.23 (72,360,917-73,855,3 26)x3 schizophrenia NUD, co-morbid alcohol dependence and mild to moderate intellectual disability q11.23 q11.23     23871472 Sweden_2 ~1.49 Mb duplication Edit
95 3839444_4_2 46, X?, der(7)(qter-> p22::q21-> qter) de novo still born - no description q21 qter     3839444 case 4 monosomy of 7p22-pter & trisomy of 7q21-qter Edit
96 Verela_1981 46, XY, der(5)t(5;7)(p14;q21) mat psychomotor retardation, hypertelorism, micro/retrognathia, low-set ears, malformed ears, cleft palate, VSD q21 qter     11536263, 11536263, 12407716   mother had balanced t(5;7); first reported in Varela et al, Jerusalem Conference of Human Genetics, 1981 Edit
97 18558289_4_2 4?, XX [+2q24~q31,+7p,+ 7q21, +7q32~qter, -10q23, +12p, +17q11.2~q12 detected by microarray] cutaneous T-cell lymphoma, Sezary syndrome q21 q21     Case 4   Edit
98 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
99 Unpublished_51 XY, dup(7)(q21.1q34) chronic lung disease, pulmonary hypertension, developmental delay q21.1 q34     51 data unpublished Edit
100 Morales_ESHG2005_1 46, XY, dup(7)(q21.1q31.3) [90%]/ 46, XY, del(7)(q21.1q31.3) [10%] de novo microretrognathia, low & dysplastic ears, short neck, small mouth, cutaneous syndactyly of 2nd & 3rd toes, hip dislocation, long fingers with metacarpo-falangeal & interfalangeal articulations hyperextensibility q21.1 q31.3     newborn male Morales et al., ESHG, 2005, #P0330 Edit
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