Table 2 Genetic features assessed in DGS/VCFS parents-of-origin.
From: An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome
Sample ID | Relationship | Deletion and duplication frequency in sperm | Segmental duplication blocks | Pseudogene sequences | 22q11.2 inversion | PRDM9 genotype | |||
|---|---|---|---|---|---|---|---|---|---|
22q11.2 1 | 15q11-q13 2 | 7q11.22 | LCR22-2 | LCR22-4 | |||||
DG1F | DGS/VCFS father | Normal | Normal | Normal | — | — | 5 | Absence | A/A |
DG2F | DGS/VCFS father | Increased | Normal | Normal | Decreased | Increased | 0 | Absence | A/L50 |
DG3F | DGS/VCFS father | Normal | Normal | Normal | — | — | 0 | Absence | A/L9 |
DG5F | DGS/VCFS father | Increased | Normal | Normal | Increased | Increased | 3 | Absence | A/A |
DG6M | DGS/VCFS mother | — | — | — | — | — | 2 | Absence | A/A |
DG7F | DGS/VCFS father | Normal | Normal | Normal | — | — | 0 | Absence | A/A |
DG8F | DGS/VCFS father | Normal | Normal | Normal | — | — | 0 | Absence | A/L24 |
DG9M | DGS/VCFS mother | — | — | — | — | — | 0 | Absence | A/A |
