Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFemaleHumansMaleChinaChromosome Aberrations
[Genetic analysis of a Chinese pedigree affected with complex chromosomal structural variants].
Yabing Zhang, Jiao Liu, Tingting Ji, Yawen Guan, Bin Mao, Xiaoling Ma
Published: 202510.3760/cma.j.cn511374-20250407-00207
Abstract
OBJECTIVE: To explore the mechanism and clinical manifestations of a case with complex structural variations involving chromosomes 5, 7, and 14, and assess the value of Chromosome conformation-based karyotyping (C-MoKa) for its diagnosis. METHODS: Tw…
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