Article
[Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Wu Jianzhu, He Zhiming, Lin Shaobin, Xie Yingjun, Chen Baojiang, Chen Junhong
Abstract excerpt
OBJECTIVE: To analyze a fetus presenting with complex heart defect and assess the recurrence risk. METHODS: Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents. RESULTS: SNP-array has detected a 6.9 Mb microdeletion at 1p36.33-p36.23 in the fetus. Chromosomal and FISH analyses indicated that...
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