Table 3.
List of variants of uncertain significance.
| Patient Number |
Gender | Array CGH Result (hg18) | Chromosome Region (Genes Associated with ASD Phenotype) |
Aberration Type |
Size (Mb) |
IQ | Additional Clinical Features |
|---|---|---|---|---|---|---|---|
| 2 | Male | arr22q11.22(22,336,268 − 22,556,733) × 1 | 22q11.22 (CRKL, FGF8, TBX1) |
Deletion | 0.220 | 72 | Developmental delay |
| 6 | Male | arr17p13.3(1693 − 2,393,788) × 1 | 17p13.3 (MDLS) |
Deletion | 2.392 | 85 | Developmental delay |
| 10 | Female | arr9p24.39p23(204,193 − 10,972,824) × 1 | 9p24.39p23 (KANK1) |
Deletion | 10.768 | N/A | Developmental delay |
| 17 | Male | arr16q22.1q22.2(69,098,865 − 72,591,930) × 1 | 16q22.1q22.2 (SCA4) |
Deletion | 3.493 | 69 | Developmental delay |
| 19 | Male | arr12p13.33p13.32(173,786 − 4,424,837) × 1 | 12p13.33p13.32 (EMG1) |
Deletion | 4.250 | 69 | Developmental delay |
| 23 | Male | arr20p12.3(8,085,389 − 8,589,571) × 1 | 20p12.3 (PLCB1) |
Deletion | 0.504 | 78 | Developmental delay |
| 24 | Male | arrXq13.1(69,228,881 − 69,240,595) × 0 | Xq13.1 (NLGN3) |
Deletion | 0.012 | N/A | Developmental delay |
| 26 | Female | arrXp21.2(29,336,996 − 29,372,188) × 1 | Xp21.2 (CDKL5) |
Deletion | 0.035 | N/A | Developmental delay |
| 36 | Male | arrXp22.33(1 − 2,196,782) × 0 | Xp22.33 (NLGN4) |
Deletion | 2.200 | N/A | Developmental delay |
| 37 | Female | arr8q21.2q21.13(51,301,121 − 54,915,042) × 1 | 8q21.2q21.13 (TCF4) |
Deletion | 3.610 | 19 | Developmental delay |
| 38 | Male | arrXq13.1q13.3(70,749,306 − 74,335,167) × 2 | Xq13.1q13.3 (NLGN3) |
Duplication | 3.590 | 72 | Developmental delay |
| 39 | Male | arr17q25.3 (77,856,839 − 78,293,128) × 2.95 | 17q25.3 (NF1) |
Duplication | 0.436 | N/A | Developmental delay |
| arrXp22.31q28(6,980,000 − 155,270,000) × 1.1 | Xp22.31q28 (NLGN4) |
Duplication | 148.290 |
N/A, not available; IQ, intelligence quotient; ASD, autism spectrum disorder.