Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

ABSTRACT:

Background

Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay.

Method

We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication.

Results

The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autis

SUBMITTER: Shinawi M 

PROVIDER: S-EPMC3158566 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature