Table 1 The Russian cohort of children with intellectual disability with or without autism and congenital anomalies: clinical information and array CGH results
Case # | Age | Clinical features | Array CGH results (according to ISCN (2013) [[11]]) |
|---|---|---|---|
1* | 10 m (months) | Partially similar to the phenotype of 1p36 deletion and Pallister–Killian syndromes (“reverse phenotyping”, as defined by Slavotinek, 2008 [12]) | 47,XXY.arr(X)x 2,1p36.32p36.22(4,932,799-9,373,344)x1,12p13.33p11.1(153,050-33,636,183)x 2~4, |
2* | 1 y (year) | Developmental delay, pachygyria, multicystic, encephalomalacia seizures, obesity, short neck, and ear dysmorphism | arr 19q13.12p13.2(41,730,447-43,880,848)x1 |
3* | 7 y | Mild intellectual disability and facial dysmorphisms | arr 20q11.21(29,392,835-32,017,043)x1 |
4* | 8 y | Developmental delay, intellectual disability-microcephaly, single transverse palmar crease, acrosyndactyly, microphthalmia, optic nerve atrophy, downslanting palpebral fissures | 46,XX,r(11)(p15.5q24.1).arr 9q21.33(90,067,781-90,185,591)x3,11q24.1q25(121,411,392-134,916,587)x1,18p11.31(3,919,884-4,092,260)x1 |
5 | 4 y 7 m | Developmental delay, intellectual disability, microcephaly, single transverse palmar crease, clinodactyly, hypotelorism, short neck, short stature, broad breast | arr(1–22,X)x 2 |
6* | 2 y | Severe developmental delay, partially similar to the Wolf-Hirschhorn syndrome phenotype (“reverse phenotyping”, as defined by Slavotinek, 2008 [12]) | arr 4p16.3p16.1(131,000-8,695,702)×1,8p23.3p23.1(304,177-6,396,170)×3,14q32.33(106,140,000-106,230,000)×1,17p12(14,080,569-15,022,225)×1 |
7 | 4 y 3 m | Intellectual disability, high-arched palate, low-set ears, facial dysmorphisms | arr(1–22)х2,(XY)x1 |
8§ | 10 y | Intellectual disability, developmental delay, facial dysmorphisms, single transverse palmar crease, pectus excavatum, seizures, short neck | arr Xp22.33p22.2(2,333,897-9,726,574)x1,3p26.3p22.3(200,000-36,550,871)x3,12q13.13(50,803,959-50,962,257)x3,17p11.2(18,863,800-19,021,902)x3 |
9 | 1y 8 m | Severe developmental delay, seizures, microcephaly, broad flat face, myopia | arr(1–22,X)x 2 |
10 | 4y 4 m | Mild cognitive delay, optic nerve hypoplasia, strabismus, upslanting palpebral fissures, epicanthal fold, hypertrichosis, hypertelorism, broad nasal bridge | arr(1–22)х2,(XY)x1 |
11 | 4 y 3 m | Mild intellectual disability and speech delay, autism, syndactyly | 46,XY.arr 9q34.2q34.3(134,270,751-135,710,693)x1,16p13.3(755,100-1,094,049)x1,21q22.3(43,556,393-45,308,985)x1 |
12* | 9 y | Autistic disorder (Asperger syndrome), cervical spine abnormalities, pancreatitis | 46,XY,arr 3p22.1p21.32(42,284,371-44,741,252)x1 |
13 | 4 y 7 m | Speech and cognitive delay, seizures, macrocephaly, congenital heart defect, optic nerve atrophy, facial dysmorphisms | 46,XY,9phqh.arr Xp11.23(47,651,854-47,861,472)x 2,16p13.3(596,000-776,000)x3 |
14 | 4 y | Developmental and speech delay, ataxia | arr(1–22)х2,(XY)x1 |
15§ | 3 m | Developmental and cognitive delay, corpus callosum agenesis, congenital heart defect, microcephaly, pulmonary hypoplasia, facial dysmorphisms | arr 10q25.2qter(112,060,103-135,168,517)x3,13q33.3qter(108,359,829-114,080,000)x1 |
16 | 6 y 2 m | Mild developmental and cognitive delay, autistic features, microcephaly, hypertelorism, clinodactyly, syndactyly, small ears | arr(1–22)х2,(XY)x1 |
17 | 4 y11 m | Intellectual disability, speech delay, microcephaly, hypertelorism, syndactyly | 46,XX,1phqh,1qh+.arr 13q32.2(98,510,084-98,669,155)x1,16p13.3(2,141,102-2,327,412)x3 |
18 | 7 m | Developmental delay, intellectual disability-intrauterine growth retardation, cryptorchidism, facial dysmorphisms, camptodactyly, apnea | 46,XY.arr 19p13.3(260,000-4,953,188)x3 |
19 | 2 y 7 m | Intellectual disability, speech delay, autistic features, kidneys malformation | arr 5q35.3(176,800,642-176,968,043)х3,12q24.11(111,011,590-111,227,098)х3,16q12.1(47,323,368-47,469,918)х1 |
20 | 2 y 4 m | Mild developmental and cognitive delay, syndactyly, facial dysmorphisms | 46,XY.arr 10q26.2q26.3(128,192,760-134,070,099)x1,17q12(34,568,087-34,634,375)x1 |
21 | 5 y | Intellectual disability, speech delay, cognitive delay, autism | arr Yq11.223(26,903,388-27,059,018)х2,5q13.2(70,231,675-70,389,712)х3 |
22 | 1 y 11m | Severe developmental delay and congenital heart disease (long QT syndrome) | 46,XY,9phqh,22ps+.arr 1p36.33(1,893,455-2,280,666)x3,7p22.3(1,112,781-1,975,820)x3,16p13.3(510,000-1,154,048)x3,17p13.3(863,994-1,061,378)x3,20q13.33(60,810,732-62,629,910)x3,22q13.33(49,932,121-50,526,990)х3 |
23*,ǂ | 4 y | Intellectual disability, developmental delay, facial dysmorphisms, high-arched palate, congenital dislocation of the hip | 46,XY,1phqh.arr Xq28(153,130,000-153,647,227)х2,14q32.2(101,142,170-101,318,256)x3,16p13.3(814,190-962,809)х3,22q13.1(38,003,877-38,022,161)х3 |
24 | 1 y 9 m | Developmental delay, optic nerve hypoplasia | 46,XY.arr 16p13.3(3,592,260-3,783,073)х3 |
25 | 6 y | Intellectual disability, developmental and speech delay, microcephaly, seizure, partial optic nerve atrophy, ataxia, muscular hypotonia | arr(1–22,X)x 2 |
26 | 4 y | Intellectual disability, speech delay, developmental delay, microcephaly, epicanthic fold, broad nasal bridge, hypertelorism, syndactyly, clinodactyly, protruding ears | 46,XX.arr 9q34.2q34.3(135,531,562-138,074,496)x1,14q13.1(33,923,538-34,022,136)x1, 17p11.2(18,200,082-18,378,155)x1,21q22.3(45,124,515-45,308,212)x1 |
27* | 4 y 5 m | Lumbosacral dysgenesis, microcephaly, hypospadias, congenital ventricular septal defect, pectus excavatum, myelocele, small lower jaw, upslanting palpebral fissures, teeth anomalies, autistic features, mild cognitive delay | 46,XY,1qh-.arr 7q36.2q36.3(152,768,630-158,261,821)x1 |
28 | 2 y 2 m | Intellectual disability, severe developmental and cognitive delay, microcephaly, seizures, hypertelorism, single transverse palmar crease, syndactyly, congenital heart defect, Hirschsprung disease | 46,XY,9phqh,9qh-.arr 7p11.2(55,431,539-55,596,905)x3,9q32(115,760,113-115,953,658)x3,11p15.5(2,261,568-2,430,797)x3, 17q21.31(41,559,197-41,733,821)x3 |
29 | 1 y 5 m | Developmental delay, intellectual disability, downslanting palpebral fissures, hypertelorism, facial dysmorphisms | arr(1–22,X)x 2 |
30ǂ | 2 y 11 m | Mild intellectual disability and speech delay, obesity, hypogenitalism | arr Yq11.223(24,820,670-27,059,018)x0,3q22.3(136,509,072-136,662,243)x1,4p16.3(762,790-916,783)x1 |
31 | 2 y 5m | Intellectual disability and speech delay, short stature, flat nasal bridge, muscle hypotonia, MRI abnormalities | 46,XX,15phqh.arr 1p36.32(2,368,110-2,522,845)x1,4p16.3(752,795-906,771)x1,20q13.33(60,355,527-60,494,531)x1 |
32ǂ | 9 y10 m | Intellectual disability, autism, multiple hematomas, teeth anomalies | 46,XX,1phqh,9phqh.arr Xq13.1(70,474,715-70,608,113)x1,Xq22.1(100,082,182-100,164,698)x1,Xq28(153,145,800-153,301,421)x1,14q12(23,575,187-23,732,133)x1 |
33 | 4 y | Speech and cognitive delay, somatomegaly, congenital heart defect | arr (1–22)х2,(XY)x1 |
34 | 7 y | Speech delay, syndactyly, deafness, sandal gap, high-arched palate, congenital heart defect, epiphyseal dysplasia | 46,XY,1phqh.arr 9q34.3(137,679,970-137,867,305)x3 |
35ǂ | 11 y | Speech and cognitive delay, seizures, autism, facial dysmorphisms | 46,XX.arr Xq25(129,171,486-129,265,190)x1,Xq28(153,145,800-153,301,421)x1 |
36 | 1y 10 m | Developmental and speech delay, trigonocephaly, seizures, craniostenosis, facial dysmorphisms | arr (1–22)х2,(XY)x1 |
37 | 2y 6m | Intellectual disability, autistic features, facial dysmorphisms, single transverse palmar crease | arr (1–22)х2,(XY)x1 |
38ǂ | 4 y 6 m | Speech delay, cognitive delay, clinodactyly, hypertelorism | 46,XY.arr Xq12(66,858,503-67,027,800)x0 |
39 | 3 y | Developmental delay, intellectual disability, hydrocephaly, seizures, facial dysmorphisms | 46,XX,16qh-,16qh-.arr Xp22.2(10,353,886-10,523,886)x1,13q14.3(48,903,923-49,068,912)x1 |
40 | 9 m | Developmental delay, intellectual disability, congenital heart defect, myopia, facial dysmorphisms | 46,XX,1qh-,13pstk+.arr 5q13.2(68,931,140-72,690,180)x3 |
41 | 3 y | Severe speech and cognitive delay, microcephaly, facial dysmorphisms, single transverse palmar crease | 46,XX,9qh-.arr Xq13.3(74,566,312-74,732,745)x1,Xq21.1(33,000,232-33,118,926)x1, 12q24.31(124,056,061-124,234,471)x1, 20q13.13(48,091,851-48,205,439)x1 |
42 | 7 y | Speech and cognitive delay, high-arched palate, single transverse palmar crease, small teeth | 46,XX,15phqh+.arr 1p36.32(2,368,110-3,076,708)x1,5p15.33(403,337-1,562,887)x1 |
43 | 4 y | Intellectual disability, speech and cognitive delay, facial dysmorphisms | 46,XY,16qh-.arr 9q34.2(135,531,566-136,387,456)x1,21q22.3(44,958,870-45,311,763)x1 |
44 | 4 y | Intellectual disability, speech delay, neurobehavioral disorder | arr 11q23.3(120,091,054-120,251,056)x1,16q21(59,719,829-59,928,048)x3 |
45 | 6 y | Severe speech and cognitive delay, autism, neuromuscular disorder | 46,ХY,14cenh+ps+.arr Xq13.1(68,969,384-69,105,568)x 2,17q21.31(41,559,185-41,734,030)x3 |
46 | 2 y | Intellectual disability, speech and cognitive delay, microcephaly, autistic features, syndactyly | 46,XX,1qh-.arr Xp22.31(5,981,359-6,146,376)x1,2q36.1(222,366,094-222,493,489)x3,10q26.3(135,070,014-135,240,498)x3 |
47 | 1 y | Developmental and speech delay, congenital heart defect, congenital lung malformation, syndactyly, esophageal atresia, cleft palate | 46,XY.arr 7q11.23(76,142,331-76,323,858)x3,17q21.31(41,559,185-41,734,024)x3 |
48ǂ | 4 y | Intellectual disability, autism | 46,XY, 9phqh.arr Xq28(154,487,912-154,657,923)x0 |
49ǂ | 4 y10 m | Intellectual disability, developmental delay, facial dysmorphisms, clinodactyly, dentinogenesis imperfecta, enteroparesis | 46,ХX,9phqh,17ps.arr Xp11.22(53,447,485-53,580,290)x1,Xq28(153,108,683-153,301,517)x1,6q27(167,301,688-167,434,477)x3,13q12.13(24,807,453-24,811,446)x3, |
50 | 4 y | Intellectual disability, developmental delay, autism, Rett syndrome-like phenotype | 46,ХX.arr Xp11.22(53,447,485-53,580,289)х1,Xq21.1(76,803,206-77,014,852)x1,Xq24(118,784,619-119,190,484)x1,Xq25(128,518,217-128,669,369)x1,Xq28(153,435,103-153,876,315)x1,11p15.5(2,624,666-2,805,697)x1,17p11.2(18,863,800-19,021,902)x1. |
51ǂ | 1 y 10 m | Developmental and speech delay, facial dysmorphisms | 46,ХX.arr Xq28(153,435,103-153,609,374)х1,Xq28(152,731,931-152,937,571)x1,14q32.33(105,149,438-105,332,624)x1 |
52ǂ | 4 y 6 m | Intellectual disability, developmental delay, autism | 46,XY,9phqh.arr Yq11.223(23,230,058-25,468,406)x0,1p36.33(2,120,746-2,270,566)x1,5q13.2(68,931,140-70,516,922)x1 |
53*§ | 6 y | Developmental and speech delay, microcephaly, cleft palate, facial dysmorphisms | arr Xp22.31(7,093,720-7,192,728)x1,Xq12(67,322,691-67,466,465)х1,Xq22.3(109,649,422-109,735,628)x1,1q44(246,424,879-249,250,621)x1,16p13.3p13.12(86,162-14,529,445)x3,6q26(163,806,110-163,923,922)x1 |
54 | 5 y 10 m | Intellectual disability, developmental delay, autism, Rett syndrome-like phenotype | 46,ХX,1phqh.arr Xp22.12(19,630,934-19,799,405)х1,6p12.3(133,786,272-133,963,451)x3 |