Number | Ultrasound findings | location of the CNV | Size | Protein-coding genes | Inheritance | Karyotye | Outcomes | birth with defects | Age at study (M) | Developmental disorders |
---|---|---|---|---|---|---|---|---|---|---|
1 | Complex congenital heart disease | arr[GRCh37] Xp22.31(7819527_8432715) × 1 | 613 Kb | PNPLA4 | NA | 46, XX | TOP | – | – | – |
2 | / | arr[GRCh37] Xp22.31(6444607_8135053) × 1 | 1.69 Mb | PNPLA4, PUDP, STS, VCX, VCX3A | NA | 46, XX | Born | / | 53 | / |
3 | / | arr[GRCh37] Xp22.31(6802248_7686400) × 1 | 884 Kb | PUDP, STS | NA | 46,XX | Born | / | 47 | / |
4 | / | arr[GRCh37] Xp22.31(6643421_7157128) × 1 | 514 Kb | PUDP, STS | NA | 46, XX | Born | / | 44 | / |
5 | Ventricular septal defect | arr[GRCh37] Xp22.31(6488784_8135053) × 1 | 1.65 Mb | PNPLA4, PUDP, STS, VCX | Inherited from mother | 46, XX | Born | / | 34 | / |
6 | Cystic hygroma of the neck | arr[GRCh37] Xp22.31(6456940_8135053) × 1 | 1.68 Mb | PNPLA4, PUDP, STS, VCX | NA | 46, XX | TOP | – | – | – |
7 | Echogenic intracardiac focus | arr[GRCh37] Xp22.31(6456940_8135053) × 1 | 1.68 Mb | PNPLA4, PUDP, STS, VCX | NA | 46, XX | Born | / | 8 | / |
8 | / | arr[GRCh37] Xp22.31(6456940_8135053) × 1 | 1.68 Mb | PNPLA4, PUDP, STS, VCX | NA | 46, XX | Born | / | 6 | / |
9 | / | arr[GRCh37] Xp22.31(6456940_8135053) × 1 | 1.68 Mb | PNPLA4, PUDP, STS, VCX | NA | 46, XX | Born | / | 3 | / |