A Novel (Paternally Inherited) Duplication 13q31.3q32.3 in a 12-Year-Old Patient with Facial Dysmorphism and Developmental Delay

We report a 12-year-old boy referred to the Clinical Genetics service in view of facial dysmorphism, learning difficulties and autistic spectrum disorder. 60K arrayCGH revealed an 8.2-Mb duplication on chromosome 13q31.3q32.3, which was paternally inherited. This specific duplication on chromosome 13 has not been previously reported in the medical literature, and there are no familial or de novo patients with the same duplication breakpoints....