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

作者：Chen Chih Ping^*; Lin Chen Ju; Chen Yi Yung; Wang Liang Kai; Chern Schu Rern; Wu Peih Shan; Su Jun Wei; Chen Li Feng; Town Dai Dyi; Pan Chen Wen; Wang Wayseen

来源：Gene, 2013, 532(1): 80-86.

DOI：10.1016/j.gene.2013.09.025

• 3q duplication
• 9q deletion
• CLDN1
• CLDN16
• EPHB3
• Omphalocele

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 9q343 encompasses EHMT1. We review the literature of partial trisomy 3q associated with omphalocele and discuss the genotype-phenotype correlation in this case.

• 出版日期2013-12-10
• 单位中国医科大学