Article
[Application of single nucleotide polymorphism array for the identification of pathogenic copy number variations in fetuses with malformations and women with an adverse reproductive history].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017
Liu Jing, Xi Hui, Wang Hua, Jia Zhenjun, Zhou Yuchun, Wu Lingqian
Abstract excerpt
OBJECTIVE: To apply single nucleotide polymorphism microarray (SNP array) for the detection of genome-wide copy number variations(CNVs) in fetuses with malformations and women with an adverse reproductive history, and to explore the correlation of rare CNVs with the clinical manifestations. METHODS: Amniotic fluid and umbilical cord blood samples were collected from 314 women with singleton pregnancy. SNP array...
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