16p11.2 deletion syndrome
| 16p11.2 deletion syndrome | |
|---|---|
| Symptoms | motor speech and developmental coordination disorders, language disorder, psychiatric conditions, autism spectrum features |
| Complications | Obesity and related comorbidities |
| Causes | Genetic (typically de novo) |
| Diagnostic method | Genetic testing |
| Differential diagnosis | Global developmental delay, autism spectrum disorder, any chromosome abnormality associated with intellectual disability |
| Management | Depends on symptoms |
| Frequency | ~1 in 2,000 |
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases.