Article
[Analysis of genome-wide copy number variations among fetuses with abnormalities detected by prenatal ultrasouography].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2017
Wu Ke, Tang Shaohua, Chen Chong, Li Huanzheng, Zhou Lili, Lyu Jianxin
Abstract excerpt
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and...
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