Table 2.
Clinically significant CNVs.
| Patient Number |
Gender | Array CGH Result (hg18) | Chromosome Region (Genes Associated with ASD Phenotype) |
Aberration Type |
Size (Mb) |
Clinical Significance | IQ | Additional Clinical Features |
|---|---|---|---|---|---|---|---|---|
| 1 | Male | arr15q11.2(22,842,145 − 25,235,046) × 3 | 15q11.2 (UBE3A, SNRPN, CHRNA7) |
Duplication | 2.393 | Susceptibility to ASD | N/A | Developmental delay |
| arr15q11.2q13.1(25,236,676 − 28,559,402) × 4 | 15q11.2q13.1 (UBE3A, SNRPN, CHRNA7) |
Duplication | 3.323 | |||||
| 3 | Male | arr17p11.2(16,782,546 − 20,219,464) × 1 | 17p11.2 (RAI1) |
Deletion | 3.437 | Smith-Magenis syndrome | N/A | Developmental delay and facial dysmorphism |
| 4 | Male | arr7q11.23(72,776,313 − 74,133,332) × 1 | 7q11.23 (AUTS2) |
Deletion | 1.367 | Williams syndrome | N/A | Developmental delay |
| 5 | Female | arr15q11.2q13.2(22,765,628 − 30,653,876) × 4 | 15q11.2q13.2 (UBE3A, SNRPN, CHRNA7) |
Duplication | 7.888 | Susceptibility to ASD | N/A | Developmental delay |
| arr15q13.2q13.3(30,653,877 − 32,509,926) × 3 | 15q13.2q13.3 (CHRNA7) |
Duplication | 1.856 | |||||
| 7 | Female | arr22q11.21(18,706,001 − 21,505,417) × 3 | 22q11.21 (CRKL, FGF8, TBX1) |
Duplication | 2.799 | Susceptibility to ASD | N/A | Developmental delay and facial dysmorphism |
| 8 | Male | arr4p15.1p12(28,451,191 − 47,062,229) × 4 | 4p15.1p12 (UGDH) |
Duplication | 18.611 | Susceptibility to ASD | N/A | Developmental delay |
| 9 | Female | arr22q11.23q12.1(25,695,469 − 25,903,543) × 0 | 22q11.23q12.1 (CRKL, FGF8, TBX1) |
Deletion | 0.208 | Susceptibility to ASD | N/A | Developmental delay |
| 11 | Male | arr4p16.3(72,447 − 3,848,881) × 1 | 4p16.3 (WHS) |
Deletion | 3.776 | Wolf-Hirschhorn syndrome |
33 | Developmental delay and facial dysmorphism |
| 12 | Female | arr15q11.2q13.3(22,770,421 − 32,915,593) × 1 | 15q11.2q13.3 (UBE3A, SNRPN, CHRNA7) |
Deletion | 10.145 | Angelman syndrome | N/A | Developmental delay and facial dysmorphism |
| 13 | Female | arr4p16.3(68,345 − 4,044,985) × 1.0 | 4p16.3 (WHS) |
Deletion | 3.977 | Wolf-Hirschhorn syndrome |
55 | Developmental delay and facial dysmorphism |
| 14 | Female | arr22q13.33(50,967,018 − 51,197,725) × 1 | 22q13.3 (SHANK3) |
Deletion | 0.231 | Susceptibility to ASD | N/A | Developmental delay and facial dysmorphism |
| arr4p16.3p14 (68,345 − 40,111,547) × 3 | 4p16.3p14 (WHS) |
Duplication | 40.000 | |||||
| 15 | Female | arr18p11.32p11.21(136,227 − 15,181,207) × 4 | 18p11.32 18p11.21 (SMCHD1) |
Duplication | 15.045 | Susceptibility to ASD | 57 | Developmental delay and facial dysmorphism |
| 16 | Male | arr11q13.4q14.3(71,567,724 − 89,547,851) × 4 | 11q13.4q14.3 (SHANK2) |
Duplication | 17.980 | Susceptibility to ASD | 34 | Developmental delay and facial dysmorphism |
| 18 | Female | arr2q22.1q22.3(141,332,947 − 145,948,739) × 1 | 2q22.1q22.3 (TBR1) |
Deletion | 4.161 | Susceptibility to ASD | 55 | Developmental delay and facial dysmorphism |
| 21 | Male | arr1p31.3p31.1(61,947,700 − 73,030,143) × 1 | 1p31.3p31.1 (NEGR1) |
Deletion | 11.080 | Susceptibility to ASD | N/A | Developmental delay and facial dysmorphism |
| 22 | Female | arr3q22.3q23(138,681,193 − 139,438,715) × 3 | 3q22.3q23 (ZBTB20) |
Duplication | 0.758 | Susceptibility to ASD | N/A | Developmental delay |
| 23 | Male | arr10p15.3(162,270 − 468,133) × 3 | 10p15.3 (DIP2C) |
Duplication | 0.306 | Susceptibility to ASD | 78 | Developmental delay |
| 25 | Male | arr14q21.2q22.1(45,863,061 − 50,360,747) × 0 | 14q21.2q22.1 (NIN) |
Deletion | 4.500 | Deletion of the NIN gene | N/A | Developmental delay |
| 27 | Female | arr2q23.3q24.1(150,619,633 − 157,576,339) × 1.3 | 2q23.3q24.1 (MBD5) |
Deletion | 6.957 | Susceptibility to ASD | N/A | Developmental delay |
| 28 | Male | arr18q21.33q23(60,414,497 − 78,003,508) × 1 | 18q21.33q23 (NETO1, FBXO15) |
Deletion | 17.590 | Susceptibility to ASD | N/A | Developmental delay |
| 29 | Male | arr22q11.21(18,657,470 − 21,843,336) × 1 | 22q11.21 (CRKL, FGF8, TBX1) |
Deletion | 3.190 | CATCH22 | N/A | Developmental delay |
| 30 | Male | arrXp22.31(6,450,627 − 8,141,242) × 0 | Xp22.31 (NLGN4) |
Deletion | 1.690 | Susceptibility to ASD | 80 | Developmental delay |
| arrXp22.31(8,429,167 − 8,435,863) × 0.5 | Xp22.31 (NLGN4) |
Deletion | 1.310 | |||||
| 31 | Female | arr15q11.2(20,760,484 − 23,601,857) × 1.1 | 15q11.2 (UBE3A, SNRPN, CHRNA7) |
Deletion | 2.840 | Susceptibility to ASD | 41 | Developmental delay |
| 32 | Male | arr15q11.2(22,748,697 − 23,188,522) × 1 | 15q11.2 (UBE3A, SNRPN, CHRNA7) |
Deletion | 0.440 | Susceptibility to ASD | 35 | Developmental delay |
| 33 | Male | arr15q11.2q13.1(23,614,732 − 28,536,497) × 1 | 15q11.2q13.1 (UBE3A, SNRPN, CHRNA7) |
Deletion | 4.920 | Angelman syndrome | 17 | Developmental delay |
| 34 | Male | arr9q34.3 (140,687,823 − 140,695,906) × 1 | 9q34.3 (TSC1, EHMT1) |
Deletion | 0.008 | Kleefstra syndrome | 59 | Developmental delay and facial dysmorphism |
| 36 | Male | arrXq28(152,956,854 − 155,270,560) × 2 | Xq28 (MECP2) |
Duplication | 2.310 | Susceptibility to ASD | N/A | Developmental delay |
N/A, not available; IQ, intelligence quotient; ASD, autism spectrum disorder.