MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.

Duplication 17pll.2 syndrome is a recent recognized syndrome with multiple congenital anomalies and mental retardation. Most patients with duplication 17p11.2 syndrome harbor a common 3.7 Mb duplication (17p.11.2 duplication syndrome) resulting in congenital anomalies, neurodevelopmental and behavioral phenotypes. We report a case with spina bifida, tetralogy of Fallot and a small duplication (932 Kb) of 17pl1.2 containing approximately 20 genes, detected by array-CGH. We describe clinical features not reported previously for microduplication of 17p11.2.