Table 2 Summary male fetuses with Xp22.31 deletions
Number | Ultrasound findings | location of the CNV | Size (Mb) | Protein-coding genes | Inheritance | Karyotype | Outcomes | birth with defects | Age at study (M) | Developmental disorders | Skin findings |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Gastroschisis | arr[GRCh37] Xp22.31(6516735_8131442) × 0 | 1.61 | PNPLA4, PUDP, STS, VCX | Inherited from the mother | 46, XY | TOP | – | – | – | – |
2 | Cystic hygroma of the neck | arr[GRCh37] Xp22.31(6516735_8131442) × 0 | 1.61 | PNPLA4, PUDP, STS, VCX | Inherited from the mother | 46, XY | TOP | – | – | – | – |
3 | / | arr[GRCh37] Xp22.31(6456940_8131442) × 0 | 1.67 | PNPLA4, PUDP, STS, VCX | Inherited from the mother | 46, XY | TOP | – | – | – | – |
4 | / | arr[GRCh37] Xp22.31(6456940_8123407) × 0 | 1.67 | PNPLA4, PUDP, STS, VCX | NA | 46, XY | Born | / | 54 | / | dry, and polygonal scales on the abdomen, arms, and legs |
5 | / | arr[GRCh37] Xp22.31(6456940_8123407) × 0 | 1.67 | PNPLA4, PUDP, STS, VCX | NA | 46, XY | Born | / | 50 | / | dry, and polygonal scales on the abdomen, arms, and legs |
6 | / | arr[GRCh37] Xp22.31(6456940_8123407) × 0 | 1.67 | PNPLA4, PUDP, STS, VCX | NA | 46, XY | Born | / | 50 | / | dry, and polygonal scales |
7 | / | arr[GRCh37] Xp22.31(6456940_8123407) × 0 | 1.67 | PNPLA4, PUDP, STS, VCX | Inherited from the mother | 46, XY | TOP | – | – | – | – |
8 | Abnormal external genital development | arr[GRCh37] Xp22.31(6486490_123407) × 0 | 1.64 | PNPLA4, PUDP, STS, VCX | Inherited from the mother and maternal grandfather | 46, XY | Born | Hypospadias | 44 | / | mild ichthyosis |
9 | / | arr[GRCh37] Xp22.31(6486490_8123407) × 0 | 1.64 | PNPLA4, PUDP, STS, VCX | Inherited from the mother, the elderbrother also carried | 46, XY | Born | / | 43 | / | dry, and polygonal scales on the abdomen, arms, and legs |
10 | / | arr[GRCh37] Xp22.31(6631810_7837470) × 0 | 1.21 | PUDP, STS, VCX | Inherited from the mother and maternal grandfather | 46, XY | Born | / | 33 | / | mild ichthyosis |
11 | Double aortic arch | arr[GRCh37] Xp22.31(6681676_7874503) × 0 | 1.19 | PNPLA4, PUDP, STS, VCX | NA | 46, XY | Born | / | 32 | / | mild ichthyosis |
12 | / | arr[GRCh37] Xp22.31(6456940_8123407) × 0 | 1.67 | PNPLA4, PUDP, STS, VCX | NA | 46, XY | Born | / | 29 | / | ichthyosis symptoms are more serious |