Puvabanditsin S, Gueye-Ndiaye S, Puthenpura V, Gengel N, Tam V, Mehta R
Genet Couns. 2016;27(4):503-507.
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.
17p11.2重复综合征是一种最近才被认识的综合征，伴有多种先天性异常和智力发育迟缓。大多数17p11.2重复综合征患者存在一个常见的3.7兆碱基重复（17p.11.2重复综合征），导致先天性异常、神经发育和行为表型。我们报告了一例患有脊柱裂、法洛四联症以及通过阵列比较基因组杂交检测到的17p11.2区域一个小的重复（932千碱基）（包含约20个基因）的病例。我们描述了以前未报道过的17p11.2微重复的临床特征。
