Microduplication of 17p[dup (17) (12p11.2) ]: Report of a Neonate with a Spina Bifida and Cardiac Anomalies and a Literature Review
Puvabanditsin, S.; Gueye-Ndiaye, S.; Puthenpura, V.; Gengel, N.; Tam, V.; Mehta, R.
Genetic Counseling 27(4): 503-507
2016
ISSN/ISBN: 1015-8146 PMID: 30226970 Document Number: 688157
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.