In patient 6, a 11-year-old boy with GDD/ID, epilepsy, autism spectrum disorder (ASD) and obesity was detected a 16p13.2-16p13.13 duplication (3.8 Mb), including GRIN2A gene -known to be associated with epilepsy and GDD/ID- and also 16p13.2 region -known to be associated with 16p13.2 duplication syndrome - USP7 gene usually involving ASD and GDD/ID- these features were also described in our patients [27]. The gene discussed is USP7; the disease is autism spectrum disorder.