Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect

Abstract

Congenital heart defects (CHD) represent one of the most common birth defects. This study aimed to evaluate the value of multiplex ligation-dependent probe amplification (MLPA) as a tool to detect the copy number variations (CNVs) of 22q11 in fetuses with CHD. A large cohort of 225 fetuses with CHD was screened by fetal echocardiography. Once common… (More)
DOI: 10.1186/s13039-015-0209-5

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@inproceedings{Zhang2015AnalysisOC, title={Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect}, author={Jingjing Zhang and Dingyuan Ma and Yan Wang and Li Cao and Yun Wu and Fengchang Qiao and An Liu and Li Li and Ying Lin and Gang Liu and Cuiyun Liu and Ping Hu and Zhengfeng Xu}, booktitle={Molecular Cytogenetics}, year={2015} }