臨床病理学のアーカイブ

16p11.2 Delection Syndrome and Complex congenital cardiopathy

José Salvador García Morillo

The 16p11.2 delection are recurrently associated with characteristic clinical variables including language development delay, learning difficulties and/or intellectual disability, socialization difficulties with or without autism spectrum disorder, and minor dysmorphic facial features ( without a constant pattern) (1,2,3). However, the main characteristic of the patient in our case is complex congenital heart disease related with “ novo”delection in cytoband 16p11.2 of chromosome 16 with genomic coordinates chr16:28,824,594-29,031, 200.