Clinical and demographic findings in patients with 16p11.2 deletions and duplications
| Item | Deletions | Duplications |
| Number of patients | 17* | 10 |
| Male:female | 3.2:1 | 1.5:1 |
| De novo/inherited | 8/2 | 3/2 |
| Mean age at diagnosis (±SD) | 5.9±9.1 | 12.6±9.3 |
| zHC† (CI) | +1.16 (+0.61; +1.71) | 1.23 (−2.65; +0.19) |
| Microcephaly/macrocephaly | 11‡/16 macrocephaly | 6/10 microcephaly |
| Speech delay and cognitive impairment | 14/14§ | 10/10 |
| Motor delay | 8/16 | 6/10 |
| Autism | 3/11** | 0/10¶ |
| ADHD and other behavioural problems | 6/16 | 6/10 |
| Seizures | 5/16 | 3/10 |
| Congenital anomalies | 5/16 | 5/10 |
| Eye accommodation problems | 3/16 | 2/10 |
| Abnormal brain imaging | 7/10 | 2/5 |
↵* Includes 1 asymptomatic patient.
↵† Z scores of head circumference (HC) and the 95% CI.
↵‡ 5 patients with absolute macrocephaly and 6 with relative macrocephaly.
↵§ 2 patients were too young to be evaluated for this phenotype.
↵¶ 2 patients had autistic features.
↵** 5 patients were too young to be evaluated for autism.
ADHD, attention deficit hyperactivity disorder.