Quantcast

3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.

Research paper by Chih-Ping CP Chen, Chen-Ju CJ Lin, Yi-Yung YY Chen, Liang-Kai LK Wang, Schu-Rern SR Chern, Peih-Shan PS Wu, Jun-Wei JW Su, Li-Feng LF Chen, Dai-Dyi DD Town, Chen-Wen CW Pan, Wayseen W Wang

Indexed on: 24 Sep '13Published on: 24 Sep '13Published in: Gene



Abstract

We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal screening and facial dysmorphism with distinct features of the 3q duplication syndrome and Kleefstra syndrome. The 26.61-Mb duplication of 3q26.31-q29 encompasses EPHB3, CLDN1 and CLDN16, and the 972-kb deletion of 9q34.3 encompasses EHMT1. We review the literature of partial trisomy 3q associated with omphalocele and discuss the genotype-phenotype correlation in this case.