A novel (paternally inherited) duplication 13q31.3q32.3 in a 12-year-old patient with facial dysmorphism and developmental delay.

摘要: 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 13 has not been previously reported medical literature, there are no familial or de novo patients with same breakpoints. region contains 24 OMIM genes, including glypicans GPC5 GPC6, ZIC2 gene. discuss relevance this imbalance impact our patient's phenotype. Given that 13q inherited, although initially thought be uncertain significance, exploring family history further, it became apparent father had as child previous surgery for congenital diaphragmatic hernia. Here we explore phenotype association novel add existing literature array findings within region.