Article
[SNP array analysis of three cases with partial 21q trisomy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017
Zhou Lili, Chen Chong, Zheng Zhaoke, Wu Hao, Xie Fanni, Lin Xiaoling, Xiang Yanbao, Xu Xueqin, Tang Shaohua
Abstract excerpt
OBJECTIVE: To analyze three cases with partial 21q trisomy, and correlate their genotypes with phenotypes. METHODS: G-banding chromosomal analysis and single nucleotide polymorphism (SNP array) were performed for the three cases and their parents. RESULTS: SNP array has detected partial 21q trisomy in three cases and one mother, with variable size and location of the duplications. Case 1 harbored a 12.35 Mb...
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