Table 1

Clinical and demographic findings in patients with 16p11.2 deletions and duplications

Number of patients17*10
De novo/inherited8/23/2
Mean age at diagnosis (±SD)5.9±9.112.6±9.3
zHC (CI)+1.16 (+0.61; +1.71)1.23 (−2.65; +0.19)
Microcephaly/macrocephaly11/16 macrocephaly6/10 microcephaly
Speech delay and cognitive impairment14/14§10/10
Motor delay8/166/10
ADHD and other behavioural problems6/166/10
Congenital anomalies5/165/10
Eye accommodation problems3/162/10
Abnormal brain imaging7/102/5
  • * 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.