Table 3.
ASD rates among probands
| Region | Number | n ASD (male) | % de novoa | Age mean (sd) | Age range (years) | % male |
|---|---|---|---|---|---|---|
| AB/AC deletion group | 12 | 5(3) | 90% | 10.0 (4.4) | 5–18 | 58% |
| A-B deletion | 9 | 4(3) | 90% | 8.7 (3.7) | 5–15 | 67% |
| A-C deletion | 3 | 1(0) | 100% | 13.7 (4.8) | 9–18 | 33% |
| BD/CD deletion group | 8 | 0 | 60% | 10.5 (4.8) | 5–18 | 25% |
| B-D deletion | 6 | 0 | 70% | 10.2 (3.8) | 6–17 | 17% |
| C-D deletion | 2 | 0 | 0% | 11.6 (9.1) | 5–18 | 50% |
| Classic AD duplication | 29 | 7(5) | 67% | 7.1 (3.4) | 2–13 | 75% |
| BD/CD duplication group | 5 | 1(0) | 30% | 12.7 (10.4) | 5–31 | 60% |
| B-D duplication | 3 | 1(0) | 0% | 15.8 (13.1) | 7–31 | 67% |
| C-D duplication | 2 | 0 | 50% | 8.0 (4.1) | 5–11 | 50% |
Participant characteristics and autism diagnosis for all probands with a nested deletion of 22q11.2. Individuals harboring an AB or AC deletion presented with ASD at a rate of 41.6% (5 of 12). Case studies are excluded from this table
aPercentage of individuals with known inheritance