Table 1. BP1-BP2 CNV frequency in 2,525 ASD families.
15q11.2 CNV | father | mother | s1 | p1 |
---|---|---|---|---|
BP1-BP2 Deletion | 6 | 8 | 5 | 8 |
BP1-BP2 Duplication | 16 | 13 | 9 | 20 |
No CNV | 2503 | 2504 | 2022 | 2493 |
CNV overlapping the PWS/AS CR | 0 | 0 | 0 | 4 |
Sum | 2525 | 2525 | 2036 | 2525 |
PWS/AS CR – Prader-Willi syndrome/Angelman Critical Region (BP2-BP3); s1 – designated sibling; p1 – designated proband