Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies.

摘要

Interstitial duplications of 16pl3.3 have been recently suggested to be a novel recognizable syndrome [Thienpont et al., 2010], which is reciprocal to the 16pl3.3 deletion (Rubinstein—Taybi syndrome, RTS, OMIM #180849) [Hennekam, 2006]. Twelve cases have been reported till date [Hennekam, 2006; Thienpont et al., 2007; Marangi et al., 2008; Thienpont et al., 2010]. Despite the difference in the locations and sizes of the duplications, most individuals share some major phenotypes, such as characteristic facial dysmorphisms, mild to moderate intellectual disability, short stature, hand and foot anomalies. In some patients, defects in the heart (50% of patients), genitalia, and palate were present [Thienpont et al., 2010].