Deletion of 4q13.2q21.1 chromosome and autism spectrum disorder

We describe a boy with autism spectrum disorder and intellectual disability who presented a de novo interstitial deletion of the long arm of chromosome 4 (4q13.2q21.1), sized approximately 7.5 Mb, identified by array-based comparative genomic hybridization (array-CGH), considered as pathogenic and not described in the literature so far. The phenotype of this child was basically dominated by a severe neurodevelopmental impairment without particular dysmorphisms suggesting a specific genetic diagnosis at first. This case report once again underlines the importance of a genetic screening by array-CGH in individuals with autism spectrum disorder, in particular when associated with intellectual disability, even if no specific dysmorphisms are present.