Article
[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Wang Hongdan, Wu Dong, Qin Litao, Wang Tao, Zhang Hui, Xing Mengyan, Liao Shixiu
Abstract excerpt
OBJECTIVE: To analyze a child with mental retardation, growth retardation and language development disorders. METHODS: Conventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short...
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