மருத்துவ நோயியல் காப்பகங்கள்

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.