Table 1.
Descriptive characteristics of all participants in study
| Region | Number | % de novoa | Age mean (sd) | Age range (years) | % male |
|---|---|---|---|---|---|
| Total | 46 | 60% | 10.8(10.1) | 0.8–39 | 52% |
| AB/AC deletion group | 15 | 86% | 8.9(4.2) | 2–15 | 53% |
| A-B deletion | 11 | 80% | 7.8(3.8) | 2–15 | 55% |
| A-C deletion | 4 | 100% | 11.8(4.4) | 5–14 | 50% |
| BD/CD deletion group | 18 | 69% | 11.1(10.7) | 1–38 | 50% |
| B-D deletion | 14 | 77% | 10.4(9.0) | 1–38 | 43% |
| C-D deletion | 4 | 33% | 13.6(16.9) | 0.8–36 | 75% |
| BD/CD duplication group | 10 | 13% | 14.5(15.2) | 1–39 | 60% |
| B-D duplication | 8 | 0% | 16.5(16.6) | 1–39 | 63% |
| C-D duplication | 2 | 50% | 6.5(2.0) | 5–7 | 50% |
| A-B duplicationb | 1 | Unknown | 7.0 | – | 0% |
| E-F duplicationb | 2 | 0% | 6.6(2.8) | 4–8 | 50% |
Participant characteristics for all individuals with a nested deletion or duplication of 22q11.2, including three case studies with atypical nested duplications noted with superscript b
aPercentage of individuals with known inheritance
bCase studies not included in statistical analysis, medical chart review, or AB/AC and BD/CD group totals