Microduplication of 17p[dup(17)(12p11.2)1: Report of a neonate with a spina bifida and cardiac anomalies and a literature review

hbicroduplieation of I7p[dup( 17)( 12pll.2)]: report ofa neonate with a spina bifida and cardiac anomalies and a literature review: Duplication 17p! 1.2 syndrome is a recent recognized syndrome with multiple congenital anomalies and mental retardation. Most patients with duplication 17p 11.2 syndrome harbor a common 3.7 Mb duplication (17p.I1.2 duplication syndrome) resulting in congenital anomalies, neurodevelopinental and behavioral phenotypes. We report a case with spina bifida, tetralogy of Fallot and a small duplication (932 Kb) of 17p 11.2 containing approximately 20 genes, detected by array-CGH. We describe clinical features not reported previously for microduplication of 17pl 1.2.