Table 1 Demographic information and genetic characteristics. (N = 70, unless otherwise specified)
Variable (sample size) | N | % | |
|---|---|---|---|
Sex | M | 35 | 50.0% |
F | 35 | 50.0% | |
Age at assessment | 0–5 years | 19 | 27.1% |
6–11 years | 25 | 35.7% | |
12–17 years | 13 | 18.6% | |
> 18 years | 13 | 18.6% | |
Chr. 22q13.3 abnormalities | Deletion | 59 | 84.3% |
Ring chr. with deletion | 6 | 8.6% | |
SHANK3 mutation | 5 | 7.1% | |
Deletion size in Mb (N = 63)a | < 110 kb (only SHANK3) | 16 | 25.4% |
110 kb-1 Mb | 10 | 15.9% | |
1.0–1.99 Mb | 6 | 9.5% | |
2.0–2.99 | 3 | 4.8% | |
3.0–3.99 | 4 | 6.3% | |
4.0–4.99 | 4 | 6.3% | |
5.0–5.99 | 7 | 11.1% | |
6.0–6.99 | 2 | 3.2% | |
7.0–7.99 | 5 | 7.9% | |
8.0–8.99 | 5 | 7.9% | |
9.0–9.99 | 1 | 1.6% | |
Mosaicism (< 70% cells) | Present | 6 | 8.6% |
Absent | 64 | 91.4% | |