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[Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Xu Xin, Li Hongying, Zhang Li, Lu Fen, Tang Jian

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic characteristics of a child with 5q14.3 microdeletion syndrome. METHODS: Whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Candidate CNVs were verified by real-time fluorescence quantitative PCR....

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PMID: 34729758
DOI: 10.3760/cma.j.cn511374-20210119-00052

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