Table 1 CNVs involved in the two patients (hg18)
Patient | Imbalance | Size (MB) | ISCN description | Genes involved |
|---|---|---|---|---|
1 | del | 2.47 | 22q11.21(17299942-19770514) × 1 | More than 40 genes including TBX1 |
|  | del | 1.56 | Xp22.31(6498721-8057511) × 1 | HDHD1A, STS, VCX, PNPLA4 |
2 | dup | 2.84 | 22q11.21(17299942-20139009) × 3 | More than 40 genes including TBX1 |
|  | dup | 0.605 | 15q13.3(29818304-30423251) × 3 | CHRNA7 |
|  | del | 0.209 | 16p13.2(6776911-6986220) × 1 | RBFOX1 |