The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- DUPLICATIONS

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
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
101 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
102 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
103 7514153_CEM/A7_1 91-104<4n>, XX, -X, -X, add(1)(p33), add(1)(q22), dup(7)(q11q31), del(8)(p10)x2, -9, add(9)(p12), der(9)del(9)(p10)inv(9)(p10q13)x2, +del(10)(p13), +13, -14, =15, -16, -18, +add(20)(q11), +21, +22, +5-9mar [cp5] T-cell leukemia, drug resistant q11.23 q31.2 D7Z1/ D7S2512 D7S2860/ D7S471 7514153, 8546902, 10198619 cell line CEM/A7 Edit
104 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
105 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
106 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
107 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
108 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
109 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
110 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
111 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
112 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
113 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
114 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
115 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
116 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
117 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
118 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
119 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
120 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
121 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
122 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
123 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
124 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
125 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
126 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
127 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
128 10360374_9_2 45, XX, add(6)(p25), -7, dup(7)(q21q32), t(9;22)(q34;q11) [25] adult acute lymphocytic leukemia q21 q32     10360374 9 Mitelman Database, Reference No. 8064 Edit
129 3080042_9_2 46, Xq+Y, inv dup(7)(q21q35-36), t(7;15)(q34-35;q13), i(8q), dup X(q12-qter) T prolymphocytic leukemia q21 q35-36     3080042 9   Edit
130 8382105_10 58-60, XX?, der(1)t(1;2)(p11;p11), del(6)(q22), dup(7)(q21q31), del(9)(p21), del(11)(q22), add(16)(q12), add(19)(q13), inc uterine metaplastic carcinoma q21 q31     8382105 10 Mitelman Database, Reference No. 4967 Edit
131 8116566_37_2 46, XY, der(8)t(7;8)(q21;q24)dup(7)(q21q36), der(14)t(8;14)(q24;q32), der(21)t(1;21)(q11;p13) peripheral B-cell neoplasm q21 q36     8116566 37 Mitelman Database, Reference No. 5436 Edit
132 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
133 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
134 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
135 Unpublished_51 XY, dup(7)(q21.1q34) chronic lung disease, pulmonary hypertension, developmental delay q21.1 q34     51 data unpublished Edit
136 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
137 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
138 18483359_2 arr 7q21.1(84,987,863-87,283,6 35)x3 metastatic melanoma q21.1 q21.1     18483359   observed in 27.3% of 19 patient samples; 2.3Mb gain encompasses DMFT1, ABCB1 Edit
139 23695280_003 4?,XX.arr 7q21.13(88,152,747-8,720,5 83)x3 mat,12p12.2p12.1(20 ,908,843-21,295,4 33)x1 pat [hg18] cerebral palsy q21.13 q21.13     23695280 P003 ~1.56 Mb duplication encompasses ZNF804B, MGC26647, STEAP1 genes Edit
140 8986281_1 46, XX, der(7)(pter>q36::q36>q21.2:) de novo hydrocephalus, depressed nasal bridge, low-set ears, microretrognathia, short neck, enlarged lateral ventricles q21.2 q36     8986281, 11113903     Edit
141 11531975 46, XX, inv dup(7)(q21.3q35) de novo short stature, psychomotor retardation, muscular hypotonia, seizures, dysmorphic features, congenital heart defect, high arched cleft palate, micrognathia, strabismus q21.3 q35     11531975     Edit
142 19647853_5_2 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 q21.3 q31.31     19647853 UPN 5 NCBI build 35 Edit
143 10552924_III-1_2 46,XY,inv(7)(q22q31.2)mat.arr 7q21.3(97,228,569-97,240,4 23)x3 mat autism, developmental delays q21.3 q21.3     19877165, 11733747, 10552924 III-1 (Family 7543) [10552924], REF. 104 [11733747] ~12kb duplication present in twin sibs - brother (10552924_III-2) has autism and sister (10552924_III-3) has expressive language disorder; mother carries duplication but does not have AD, has features of avoidant personality disorder; *Skaar et al., 2003, Am J Hum Genet 73(Suppl): 519 Edit
144 10552924_III-2_2 46,XY,inv(7)(q22q31.2)mat.arr 7q21.3(97,228,569-97,240,4 23)x3 mat autism, developmental and speech delay q21.3 q21.3     19877165, 11733747, 10552924 III-2 (Family 7543) [Ashley-Koch et al., 1999 ], REF. 104 [Folstein & Rosen-Sheidley, 2001] ~12kb duplication present in brother (10552924_III-1) has autism and twin sister (10552924_III-3) has expressive language disorder; mother carries duplication but does not have AD, has features of avoidant personality disorder; *Skaar et al., 2003, Am J Hum Genet 73(Suppl): 519 Edit
145 19264226_4 4?,XY.arr (7q21.3)x3 diffuse-type gastric cancer q21.3 q21.3     19264226 Case 4   Edit
146 23169702 46,XX.arr 7q21.3(96,303,736–97,022,3 35)x3 de novo [hg18] unilateral syndactyly of third and fourth fingers of right hand, overgrowth and lateral deviation of right great toe, right split foot malformation with absent fifth toe q21.3 q21.3     23169702   ~719 kb duplication harbouring only DLX5 and DLX6 Edit
147 Unpublished_FN#2000-3944 46, XY, dup(7)(q22) dysfasia q22 q22     FN#2000-3944 father and brother have same karyotype; data unpublished Edit
148 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
149 Unpublished_13337 46,XY, dup(7)(q22q32) developmental delay q22 q32     13337 father has history of ADD; data unpublished Edit
150 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
151 1453440 46, XX, inv dup(7)(q22q36.1) de novo hypertelorism, macrocephaly, downward slanting palpebral fissures, anteverted nares q22 q36.1     1453440, 11113903, 11531975, 12407716, 12818530     Edit
152 9415687_proband_1 46, XY, rec(7)dup(7q)inv(7)(p22q22) pat chrondrodysplasia punctata, ocular hypertelorism, atrial septal defect, scoliosis, microretrognathia, low and malformed ears, inguinal hernia q22 qter     9415687, 11113903, 11536263 proband monosomy of 7p22-pter & trisomy of 7q22-qter Edit
153 11745275_20b 4?, XX, +6p11.2-pter, +6q24-qter, +7q22-qter, +14q22-qter, +16p, +17 thyroid carcinoma q22 qter     11745275 20b karyotype based on CGH Edit
154 12152163_OVCAR-3_2 +1p34.2-pter, +2p22-p23, -2q21, +3q, +5q23-qter, -6q24-qter, -7p11.2-pter, +7q22-qter, -8q21, +9p23-pter, -9q13-q33, -10p11.2-pter, +11p, +11q12-q14, -11q21-qter, +12p, -13q, +13q14, -14q12-q21, -15q, -16q12.1-q24, +17q22, +18p, -18q21-qter, +19q, +20p13- [CGH] serous ovarian carcinoma q22 qter     12152163 OVCAR-3   Edit
155 10745046_8 46, XY, dup(7)(q22q31) mat multiple congenital anomalies, dysmorphism, developmental delay q22 q31     10745046 case 8   Edit
156 14513052_7 +2, +7q22-q36, +12, +21, +22 [by CGH] Burkitt's lymphoma q22 q36     14513052 7   Edit
157 8289502_6_2 77, XX, +X, -Y, +3, -4, +6, der(6)del(6)(q23)dup(6)(p25p21)x2, dup(7)(q22q32)x2, +i(7)(p10), +11, +11, +12, t(12;17)(p11;q11)x2, der(14)t(14;19)(q32;p13), t(14;19), add(15)(p13), -17, +19, +20, +21, +mar/ 80, idem, +8, +8, +16/ 45, X, -Y Hodgkin disease, mixed cellularity q22 q32     8289502 6 Mitelman Database, Reference No. 5337 Edit
158 7522537_1_1 46, XX, del(5)(?q31q34), dup(7)(?q22q32), r(7) bilineage or biphenotypic leukemia q22 q32     7522537 1 Mitelman Database, Reference No. 5401 Edit
159 1377005_6_2 45-46, XY, der(1)t(1;8)(p22;q13)dup(1)(q21q25), der(2)t(2;6)(p16;p12), del(6) (p12), +t(7;20)(q11;p12), der(8)t(1;8), der(10)t(4;10)(q11;q23), add(13)(p13), -17/ 46-48, XY, t(1;4)(p34;q35), dup(1), der(2), add(3)(q21), del(6), dup(7) (q22q32), +dup(7), t(7;20), der(10), add(13) prostate cancer q22 q32     1377005 6 Mitelman Database, Reference No. 4067 Edit
160 1377005_7 39-43, XY, ins(1;?)(p32;?), t(1;16)(q21;q22), add(3)(p13), -4, -5, del(6)(p21), dup(7)(q22q32), del(8)(p21), del(10)(q24), +der(11)t(3;11)(p21;p13)ins(11;?)(q14-21; ?), -13, -17, add(18)(q21), +1-4mar/ 82-89, idemx2/ 142-156, idemx4, inv(6)(q15q21), der(12)t(1;12)(q25;q13), add(19)(p13), inc/ 211-291, idemx6 prostate cancer q22 q32     1377005 7 Mitelman Database, Reference No. 4067 Edit
161 757125 46, XX, 7q+ de novo [dup(7)(q22q36), inferred] multiple congenital anomalies, congenital heart defects q22 q36     757125, 11531975     Edit
162 15325092_3 44, XY, del(5)(q13), -7, der(7)hsr(7)(p?)t(7;18)(q25;?), der(16)t(16;18)(q12;?), -18, del(20)(p12) [11]/ 44, idem, der(20)t(9;20)(?;p12) [5] [karyotyped by SKY]
rev ish enh(3p24p25, 7q22, 11q13, 19p13.3), dim(6q27, 11q14q22, 12q24.1qter, 16q23, 18p11.3, 20p12pter) [detected by CGH]
refractory anemia with excess of blasts in transformation q22       15325092, 15611930 3 Mitelman Database, Reference No.10754 Edit
163 Kadotani_1985 46, XX, dup(7)(q22->qter) de novo hypotonia, psychomotor retardation, high forehead, epicanthic folds, micro/retrognathia, low-set & malformed ears, short neck, cerebral malformations (large ventricles), congenital heart defect q22 qter     11536263   Kadotani et al., 1985, Proc Jpn Acad 61(B): 131-133 Edit
164 15325092_1 45, XY, -5 [2]/ 44, XY, -5, der(17)t(5;17)(?;p11)hsr(17)(q21q22), -18 [13]/ 46, XY [3] [karyotyped by SKY]

rev ish enh(7q22, 11q13), dim(3p23p24.5, 5q11q33, 6q23qter, 17q23qter, 18(x2), Xq25, Xq27), amp(17q11q22) [detected by CGH]
refractory anemia with excess of blasts q22 q22     15325092, 15611930 1   Edit
165 16364762_49 65-71, -X, -Y, +add(1)(p11), t(1;1)(p10;p10), +3, der(4)del(4)(p11)hsr(4)(p11), -5, -5, +der(6)t(5;6)(q15;q13), +dup(7)(q22q23), +add(8)(p21), der(8;14)(q10;q10), -9, -9, -10, +add(11)(p13), der(11)add(11)(q13)hsr(q13)x2, der(11;15)(q10;q10), -12, -13, i(13)(q10)x2, -14, i(14)(q10), add(15)(p11)x2, -16, add(17)(p11), -18, -18, -18, -19, -19, -21, -21, i(21)(q10), inc [cp5] squamous cell carcinoma of the oral cavity - metastasis q22 q23     16364762 49 Mitelman Database, Reference No. 11284 Edit
166 2319577_1 46, XX, dup(7)(q22.1q31.2) de novo mild developmental delay, moderate hearing loss, no left kidney, dysplastic features, anaemia q22.1 q31.2     2319577, 11531975, 12407716 case 1   Edit
167 11424142 46, XY, dup(7)(q22.1q31.1) de novo Gilles de la Tourette syndrome, thick lips, mental retardation, deafness - neurosensory, low hairline - back, simian creases, crus helix abnormal, high nasal bridge, antihelix hypoplastic/a bnormal, paresis of ocular muscles/squint, micrognathia/a gnathia total/retrognathia q22.1 q31.1 PLANH1 AC004142 11424142, 11254443, 17043892 MCN ID: 20010001-023 Edit
168 19647853_30_1 4?,XX.arr 7q22.1q22.3(102,707,000-104,8 02,000)x3, 7q22.3q33(104,994,000-135,731,0 00)x1 Splenic marginal zone B-cell lymphoma q22.1 q22.3     19647853 UPN 30 NCBI build 35 Edit
169 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
170 NIGMS_GM12519 46, XX, trp(7)(pter>q36::q36>q31::q31>qter) phenotype not given q31 q36     GM12519 amniotic fluid cells Edit
171 14513052_23 +1q31-q44, +5p13-p15, +7q31-q36, +12q22-q24, +Xq26-q28 [by CGH] Burkitt's lymphoma q31 q36     14513052 23   Edit
172 15198354_3031 47-50, XX, +X, add(1)(p36.3), del(1)(q25)x1-2, +del(1)(p13p36.1)x1-2, inv(1)(p13q25), del(2)(q31q35), -3 or der(3)inv(3)(q21q26)add(3)(p12), +4, -5, del(6)(q15), dup(7)(q31q34), t(8;14)(q24;q32), -10, del(11)(q23), +12, +add(12)(p12), add(19)(p13), del(20)(q11.2q13.3), +1-3mar diffuse large B-cell lymphoma q31 q34     15198354 3031 Mitelman Database, Reference No.10625 Edit
173 15949565_5_2 rev ish enh(7p21pter, 7q31qter) [CGH] sacral chordoma q31 qter     15949565 5   Edit
174 21916832_2_2 46,XY.ish i(7)(q),dup(7)(q31q31) Chronic MyeloidLeukemia inblast crisis q31 q31     21916832 UPN-02   Edit
175 21916832_3 4?,XY,dup(7)(q31q31) MyelodysplasticSyndrome q31 q31     21916832 UPN-03   Edit
176 12818530 46, XY, dup(7)(q31.1q35) de novo mild facial dysmorphism, moderate developmental retardation, speech delay, hypotonia, heart defect (ASD, VSD) q31.1 q35     12818530     Edit
177 Babu_ASHG2001_1 46, XY, rec(7)dup(7q)inv(7)(p22q31.2)mat .ish rec(7)(wcp+, Elastin+, D7S486+, D7S522+) phenotype not given q31.2 qter       trisomy of 7q31.2-qter; mother had inv(7)(p22q31.2) Edit
178 22303804 4?,XX,dup(7)(q31.2q33) growth restriction, short stature, speech delay, inguinal hernia, strabismus, intellectual disability q31.2 q33     22303804   ~22.3 Mb duplication; discussion of ING3 and LEP as candidate genes Edit
179 19900039_2 46,XY,der(6)t(6;7)(q26;q31.2)pat.arr 6q26(162756916-170763014)x1,7 q31.2(116266547-158811327)x3 hemivertebrae with lumbar scoliosis, imperforate anus, rectoanal atresia, dilated distal rectum with presence of ganglions, rectourethralfistula, bilateralclinodactyly, mild club feet q31.2 qter     19900039 abortus ~42.5 Mb gain Edit
180 10590434_fetus 46, XY, rec(7)dup(7q)inv(7)(p22q31.3) pat macrocephaly, microretrognathia, sacral dimple, microphallus, limb abnormalities, brain anomalies, optic nerve atrophy, retinal degeneration q31.3 qter D7S490/ D7S686   10590434, 11113903 fetus   Edit
181 ECACC_1012605 46, XY, dup(7)(q31.3q32) or inv dup(7)(q31.3q22) developmental speech delay q31.3 q22 or q32     1012605 (cell line: KW0014) Edit
182 18483359_3 arr 7q31.31(118,941,035-124,625,5 14)x3 metastatic melanoma q31.31 q31.31     18483359   observed in 36.4% of 19 patient samples; 5.7Mb gain encompasses ING3, WNT16, PTPRZ1, SPAM1, POT1 Edit
183 Unpublshed_Wheeler 46, XY, dup(7)(q31.32q34) autism q31.32 q34     11733747   data unpublished by Wheeler et al. Edit
184 19246517_AUT84 46,XY.arr 7q31.33q32.1(125,672,999-126,2 55,215)x3 autism, severe mental retardation, seizures, hyperekplexia or startle disease q31.33 q32.1     19246517 AUT84 ~582.2kb duplication includes GRM8 Edit
185 648176_proposita_2 46, XX, rec(7)dup(7q)inv(7)(p22q32) pat plagiocephaly, thoracic asymmetry with scoliosis, sternal recession, high arched palate, mental and motor developmental delay, hypotonic limbs, rib abnormalities q32 qter     648176, 539602, 7521123, 7390476, 11113903 proposita (III-5, Family G111WH) [648176], 6 in Table 1 [539602], case 26 [7521123], case 12 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; daughter of 648176_father, first cousin of 648176_cousin Edit
186 14513052_5 47, X?, +7, t(8;22)(q24;q11) [+3q26-q29, +7q32-q36, +20q11-q13 by CGH] Burkitt's lymphoma q32 q36     14513052 5 Mitelman Database, Reference No. 10367 Edit
187 14513052_44 4?, X?, del(3)(p24), t(8;14) [+2p21-p25, +2q35-q37, +4p15-p16, +5p13-p15, +5q32-q35, +6p21-p25, +6q24-q27, +7q32-q36, +8q23-q24, +9q33-q34, +10q25-q26, +11, +12, +13q32-q34, +14q31-q32, +15q24-q26, +16, +17, +20, +22 by CGH] Burkitt's lymphoma q32 q36     14513052 44   Edit
188 Kulharya_ASHG1999 46, XY, dup(7)(q32q36.1) behavioural problems, no walk or crawl at 20 month of age, no dysmorphic features or skeletal abnormalities q32 q36.1     proband family history was significant for bipolar disorder; mother had depression and maniac behaviour, and had difficulty in reading; maternal aunt and all of her four children were developmentally delayed; great grandmother had nerve problem of unknown etiology; Kulharya et al., 1999, Am J Hum Genet 65 (Suppl.): A168, abstract #921 Edit
189 648176_cousin_2 46, XX, rec(7)dup(7q)inv(7)(p22q32) mat mental retardation, small stature, small hands and feet, small low-set ears, unable to rotate head, high arched palate, prognathism q32 qter     648176, 7521123, 7390476 first cousin (III-2, Family G111WH) [648176], case 14 [7521123], case 13 [7390476] monosomy of 7p22-pter & trisomy of 7q32-qter; first cousin of 648176_proposita Edit
190 15198354_7071_1 44-47, X, -X, der(2;12)(p10;q10), del(4)(q21q25), del(5)(q22q35), der(6;17)(p10;q10), +7, dup(7)(q32q36)x2, -9, del(9)(q12q22), +del(10)(q24q26), t(14;18)(q32;q21), +17, +18, +18, add(19)(q13), del(22)(q12), +mar [cp21] follicular lymphoma q32 q36     15198354 7071 Mitelman Database, Reference No.10625 Edit
191 18558289_4_3 4?, XX [+2q24~q31,+7p,+ 7q21, +7q32~qter, -10q23, +12p, +17q11.2~q12 detected by microarray] cutaneous T-cell lymphoma, Sezary syndrome q32 qter     Case 4   Edit
192 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
193 ECACC_94061306 46, XX, dup(7)(q32.1;q34)de novo phenotype not given q32.1 q34     94061306 (cell line: DD1929) Edit
194 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
195 Phalen_ASHG2003_mother 46, XX, dup(7)(q32.3q34) moderate mental retardation, long thin face, high frontal hairline, slightly low-set ears, long philtrum, high-arched palate q32.3 q34     mother mother of Phalen_ASHG2003_propositus; Phalen et al., ASHG 2003, Program #644 Edit
196 21832240_88032 4?,XY.arr 7q32.3(132,116,272-132,230,1 66)x3 mat [hg18] ASD, ADHD q32.3 q32.3     21832240 88032 ~114kb; discussion of CHCHD3 as candidate gene Edit
197 18483359_4 arr 7q32.3q35(131,765,107-146,524,5 65)x3 metastatic melanoma q32.3 q35     18483359   observed in 27.3% of 19 patient samples; 14.8 Mb gain encompasses BRAF Edit
198 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
199 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