Table 1.
Prevalence of 22q11.2 Deletions and Duplications in Population Sample and Neuropsychiatric Disorders
| Diagnostic Groupsa | 22q11.2 deletion | 22q11.2 duplication | |||
|---|---|---|---|---|---|
| n | (%) | n | (%) | ||
| Population-based sample | (n=25,704) | 7 | (0.027) | 17 | (0.066) |
| Attention-Deficit/Hyperactivity Disorder | (n=17,048) | 11 | (0.065) | 46 | (0.27) |
| Autism spectrum disorder | (n=14,618) | 14 | (0.10) | 31 | (0.2) |
| Bipolar Disorder | (n=l,588) | 0 | (0.0) | <3 | (−) |
| Depression | (n=20,579) | 5 | (0.024) | 21 | (0.10) |
| Schizophrenia | (n=2,878) | <3 | (−) | 4 | (0.14) |
| Intellectual Disability | (n=4,108) | 20 | (0.48) | 10 | (0.24) |
| Epilepsy | (n=2,529) | 9 | (0.35) | <3 | (−) |
| Any diagnosis above | (n=45,288) | 30 | (0.066) | 86 | (0.19) |
a
Sample sizes are calculated based on post quality control (See Supplementary Methods). Attention-Deficit/Hyperactivity Disorder (F90.0); Autism spectrum disorder (F84.0-F84.9); Bipolar Disorder (F30-F31); Depression: single and recurrent depression (F32-F33); Schizophrenia (F20); Intellectual Disability (F70-F79); Epilepsy (G40).%: