Article
[Genetic analysis of a fetus with partial 1q monosomy and partial 17q trisomy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Lin Shaobin, Zhang Zhiqiang, Wu Jianzhu, Ji Yuanjun, Fang Qun, Chen Baojiang, Zhou Yi
Abstract excerpt
OBJECTIVE: To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype. METHODS: G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents. RESULTS: SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at...
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