17q21.31 Microduplication Syndrome in a Patient with Autism Spectrum Disorder, Macrocephaly, and Intellectual Disability

The chromosome 17q21.31 microduplication syndrome is a rare genetic presenting with craniofacial dysmorphisms, psychomotor delay, microcephaly, behavioral disorders, and poor social interaction. Only ten patients have been reported in the literature until today. All share some specific features, including autism spectrum disorder (ASD). Here, new case of this an 11-year-old Caucasian child who presented classical clinical features association characteristics previously unreported. Array-Comparative Genomic Hybridization (aCGH) revealed partial duplication long arm 17. A review studied reported.