Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906119 | Gene | 2013 | 7 Pages |
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.
Keywords
VSDβ-HCGOmphaloceleaCGHCLDN1OMIMDUPPAPP-AQF-PCREphB3DERINVmultiples of the medianTrpSTRsArray comparative genomic hybridizationTranslocationInversionDe novoShort tandem repeatsduplicationdeletionDELTriplicationNuchal translucencyMoMVentricular septal defectatrial septal defectASDquantitative fluorescent polymerase chain reactionOnline Mendelian Inheritance in Manpregnancy-associated plasma protein-Aderivative chromosomeβ-human chorionic gonadotropin
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Authors
Chih-Ping Chen, Chen-Ju Lin, Yi-Yung Chen, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Jun-Wei Su, Li-Feng Chen, Dai-Dyi Town, Chen-Wen Pan, Wayseen Wang,