The Chromosome 7 Annotation Project
Home   GBrowse   Clinical Data   Data Tables   Download   Resources   Links   For Families  

Chromosome 7 Clinical table -- DUPLICATIONS

Search by EXACT UniqueID, Phenotype, Patient ID or PMID

Use % as a wildcard to search for partial matches.
(Eg: %DD1085 will find any entry ending in DD1085)

Help

Show Entire Table (Very Large)

Add New
# 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 12850374_1_4 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases p22 p15     12850374 1 Mitelman Database, Reference No. 10210 Edit
14 14513052_6 +7p15-p22, +Xp21-p22 [by CGH] Burkitt's lymphoma p22 p15     14513052 6   Edit
15 15949565_4_1 rev ish enh(7p22, 7q, 11q12, 19p, 19q13qter, 20p13, 20q13qter, ), dim(1p21, 3q13, 10q23) [CGH] sacral chordoma p22 p22     15949565 4   Edit
16 23871472_8036-1 4?,X?.arr 7p22 (52,899-?)x3 schizophrenia p22 p22     23871472 8036-1 ~3.26 Mb duplication Edit
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 14513052_32 4?, X?, t(8;14) [+7p14-p21 by CGH] Burkitt's lymphoma p21 p14     14513052 32   Edit
25 14513052_45 4?, X?, dup(1)(q22q31), t(8;14) [+1p22-p32, +3p21-p25, +4p13-p16, +4q21-q31, +7p13-p21, +8, +9q21-q31, +10, +11, +12q14-q22, +13q13-q21, +14q21-q31, +Xq12-q28 by CGH] Burkitt's lymphoma p21 p13     14513052 45   Edit
26 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
27 18941867_2_1 4?,XY.arr −5q22qter, +7p14p21, +7q11.2q22, −7q31qter, +8, +9, +12, −13, −14, −17p adult infratentorial glioma, glioblastoma p21 p14     18941867 Case 2 7p gain detected in 5 of 11 cases (45%) Edit
28 18483359_1 arr 7p15.1(27,845,626-30,383,3 60)x3 metastatic melanoma p15.1 p15.1     18483359   observed in 27.3% of 19 patient samples; 2.5 Mb gain encompasses JAZF1, CHN2 Edit
29 12152163_CAOV3_2 +1p, +1q21, -1q23-q32, +1q42, +2p25-q21, +3p, -3p21-p22, -4p12-p13.5, -4q21-qter, +5q13-pter, -5q11.2-q12, +6p23-q12, -6q21-qter, -7p21, +7p15-qter, -9p21-pter, -9q13-q22, +10, -11p12-pter, +11q12-q14, -11q23-qter, +12p12-pter, +12q24.2-q24.3, -13q, +14q24-qter, +15q23-qter, -16p12-p13.1, -16q13-q24, -17p13-q12, +17q21-qter, +18p11.2-pter, -18q12-qter, +19q13.2-qter, +20p11.2-qter, -21q21, +22q [CGH] serous ovarian carcinoma p15 qter     12152163 CAOV3   Edit
30 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
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 18941867_8 4?,XX.arr +7p12p13, −18q, −X adult infratentorial glioma, anaplastic astrocytoma p13 p12     18941867 Case 8 7p gain detected in 5 of 11 cases (45%) Edit
41 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
42 15949565_6_2 rev ish enh(1q21q24, 7p21pter, 7p12q22, 7q36qter, 16q24, 17q25, 19p13pter), dim(8p22, 9p13p24) [CGH] sacral chordoma p12 q22     15949565 6   Edit
43 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
44 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
45 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
46 18704985 dup(7)(p11.2p11.2) [CNV detected by microarray] osteosarcoma p11.2 p11.2     18704985   observed in 16 of 31 patient tumors Edit
47 Bartley_ACMG2009_1 arr (7p11.2)x3 Potocki-Lupski syndrome, hypospadius, developmental delay p11.2 p11.2       Bartley et al., ACMG2009, Program #239 Edit
48 19276369 arr 7p11.2(54,600,000-55,300,0 00)x3 oral squamous cell carcinoma p11.2 p11.2 RP11-81B20   19276369   present in 9 of 29 patients (31%) Edit
49 18941867_2_2 4?,XY.arr −5q22qter, +7p14p21, +7q11.2q22, −7q31qter, +8, +9, +12, −13, −14, −17p adult infratentorial glioma, glioblastoma p11.2 q22     18941867 Case 2   Edit
50 Unpublished_49 4?, XX, dup(7) phenotype not given pter qter     49 data unpublished Edit
51 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
52 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
53 Unpublished_28_2 46, XX, der(7)(pter->q36::p15->pter)mat holoprosencephaly, sacracoccygeal teratoma pter p15     28 data unpublished Edit
54 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
55 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
56 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
57 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
58 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
59 11745275_9 4?, XX, -1p21-p31, -3cen-p21, +4q, -6p21.3-pter, +7p15-pter, +8q, -9p21-pter, -10p, -11, -12p11.2-pter, -13q, -14q24-qter, +15q24-qter, -20p ovarian carcinoma pter p15     11745275 9 karyotype based on CGH Edit
60 11745275_5 4?, XX, -1p13-p31, -2p23-pter, -3cen-p14, -6q12-qter, +7pter-q21, -10p11.2-q22, +12p, +12cen-q21/+ +12q13-q21, -13q22--qter, +14q/++14q31-qter, +15q22-qter, -18cen-q2 breast carcinoma pter q21     11745275 5 karyotype based on CGH Edit
61 11745275_25 4?, XX, +1q21-qter, +2q21-qter, +3pter-q22, +5, +7pter-q22/+ +7p14-pter, +8, +14q, +15q, -Xq13-qter Hodgkin disease pter q22     11745275 25 karyotype based on CGH Edit
62 11745275_12 4?, XY, +5p, +7pter-q32, +10q24-q26, -13q, +15q astrocytoma G2-3 pter q32     11745275 12 karyotype based on CGH Edit
63 11745275_11 4?, XX, -6p12-q16, +7cen-q22 breast carcinoma cen q22     11745275 11 karyotype based on CGH Edit
64 11745275_13 4?, XX, -2pter-p23, -2q33-qter, +4q31.1-q33, +7cen-q31, -11q23-qter, -18q12-qter breast carcinoma cen q31     11745275 13 karyotype based on CGH Edit
65 12152163_OAW42 +1q, -2q21-q37, -3p12-p21, +3p22-pter, +3q26.1-qter, -4p15.3-qter, -5q12-q13, -9p24-q31, 10q, -11p14-q12, -11q14-q23, -12p, +12q12-q15, -13q, +14q22-qter, -15q12-q21, -15q24-qter, +16p12-p13.2, +17q, -18, +19q13.1-q13.4, +20, -21q11.2-q22 [CGH] serous ovarian carcinoma pter qter     12152163 OAW42   Edit
66 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
67 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
68 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
69 15949565_5_1 rev ish enh(7p21pter, 7q31qter) [CGH] sacral chordoma pter p21     15949565 5   Edit
70 15949565_6_1 rev ish enh(1q21q24, 7p21pter, 7p12q22, 7q36qter, 16q24, 17q25, 19p13pter), dim(8p22, 9p13p24) [CGH] sacral chordoma pter p21     15949565 6   Edit
71 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
72 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
73 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
74 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
75 15759858 dup(7)(p21.2-->pter) partial trisomy 7p syndrome pter p21.2     15759858     Edit
76 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
77 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
78 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
79 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
80 648175 46, XY, dup(7q) de novo multiple congenital anomalies, systolic heart murmur, bilateral cryptorchidism, mental retardation q10 qter     648175, 12407716     Edit
81 12034527_2 46, XY, der(1)t(1;1)(p36;q32), -7, +21c [17]/ 46, idem, del(9)(p22)[10] [before therapy]46, XY, der(1)t(1;1), -7, der(7)t(7;7)(p22;q10), del(9), +21c [13]/47, XY, +21c [2] [at recurrence] acute monoblastic leukemia - M5, Down syndrome q10 qter     12034527   Mitelman Database, Reference No. 9530 Edit
82 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
83 15949565_4_2 rev ish enh(7p22, 7q, 11q12, 19p, 19q13qter, 20p13, 20q13qter, ), dim(1p21, 3q13, 10q23) [CGH] sacral chordoma q10 qter     15949565 4   Edit
84 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
85 12810258_4630 46, XY, dup(7)(q11q36) meningioma, grade II q11 q36     12810258 T4630 Mitelman Database, Reference No. 10151 Edit
86 1671647_626 51, XX, +del(1)(p22), +der(3)t(3;13)(p11;p11), del(6)(q21), +dup(7)(q11q36), t(8;14)(q24;q32), +18, +19 [18]/ 98, XX, 4n+/- of the clone above diffuse large B-cell lymphoma q11 q36     1671647 UTN 626 tetrasomy of 7q11-q36; Mitelman Database, Reference No. 3729 Edit
87 7987800_28 44, X,-Y, del(2)(q33q34), t(3;11)(q27;q23), dup(4)(q3?1q2?6), add(5)(q34), t(6;16)(q23;p13), der(8)t(8;8)(p21;q11), add(9)(q34), add(12)(q24), -13, -15, der(21)t(3;21)(p21;q21), der(22)t(13;22)(q14;p13), +mar [10]/ 44, idem, dup(7)(q11q31) [3] [lymph node, TPA] peripheral T-cell lymphoma q11 q31     7987800 28 (L45/89 & L263/89) Mitelman Database, Reference No. 5593 Edit
88 2278958_7_2 48, XX, +6, +?del(6)(q21), ?t(6;9)(p23;q34), +dup(7)(q11q32), -9, t(14;18)(q32;q21)
55, XX, +2, +7, +7, +add(11)(q23), +12, +14, t(14;18)x2, +18, +r, +mar/ 55, idem, +3, +dup(7), -17, -mar
follicular lymphoma q11 q32     2278958 7 Mitelman Database, Reference No. 3294 Edit
89 2758395_78 46, XY, dup(7)(q11q22) acute myeloblastic leukemia - M1 q11 q22     2758395 78 Mitelman Database, No. 2971 Edit
90 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
91 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
92 11745275_21_2 4?, XX, -1q32-qter, -2p11.2-pter, -2q21-q24, +3p21-pter, -3q12-qter, -6p21.3-q23. -7p11.2-pter, +7q11.2-q31, -8p11.2-qter, -9p, -10pter-q21, -13q, -16, +17cen-p12, -18q12-qter, -21q, Xp11.4-qter breast carcinoma q11.2 q31     11745275 21 karyotype based on CGH Edit
93 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
94 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
95 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
96 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
97 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
98 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
99 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
100 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
MORE