Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms

Abstract

Chromosome 16p13.11 has recently been reported as a region of recurrent microdeletion/duplication, which may contribute to a specific clinical phenotype of epilepsy, significant learning difficulties and distinct facial dysmorphism. The 16p13.11 microdeletion syndrome is associated with schizophrenia, developmental delay and idiopathic generalised epilepsy. Haploinsufficiency of genes in 16p13.11 has been suggested as contributing to the pathogenicity of this microdeletion syndrome. We report a three-year-old boy with the 16p13.11 microdeletion syndrome, identified on array CGH, and describe his clinical phenotype, thereby adding to the existing literature on this newly-described microdeletion syndrome. We discuss the function and potential relevance of the genes in this region with regards to the features described in this condition.