Article
[Genetic analysis of three children with disorders of sex development caused by structural rearrangements of Y chromosome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2020
Wang Hongying, Chen Linqi, Chen Yuanyuan, Shen Yiping, Li Li, Shao Xuejun, Li Haibo
Abstract excerpt
OBJECTIVE: To explore the genetic basis of three children with disorders of sex development (DSD) in association with rare Y chromosome rearrangements. METHODS: The three children, who all featured short stature and DSD, were subjected to G banding chromosomal karyotyping, multiplex PCR for Y chromosomal microdeletion, sequencing of the whole SRY gene, SNP-array analysis for genomic copy number variations, and...
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