Article
[Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2015
Wu Dong, Wang Hongdan, Zhang Hui, Hou Qiaofang, Qin Litao, Wang Tao, Xiao Hai, Liao Shixiu, Wang Yingtai
Abstract excerpt
OBJECTIVE: To determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities. METHODS: The karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH. RESULTS: There were no karyotypic...
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