The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.

ABSTRACT:

Background

Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes.

Methods

To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis.

Results

Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmen

SUBMITTER: Hanson E 

PROVIDER: S-EPMC5410712 | biostudies-literature | 2015 May

REPOSITORIES: biostudies-literature