[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

doi:10.3760/cma.j.cn511374-20240418-00241

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[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2026

Huang Yijuan, Chen Yuanqiu, Lin Shaobin, Zhang Zhiqiang, Gou Chenyu, Li Si, Wang Xiaohong, Chen Tongtong, Gao Yu, Jiang Weiying

Abstract excerpt

OBJECTIVE: To explore the genetic characteristics of a complex balanced translocation involving four non-homologous chromosomes in a Chinese pedigree using optical genomic mapping (OGM). METHODS: A woman with primary infertility and her family members who presented at the Prenatal Diagnosis Center of the Sixth Affiliated Hospital of Sun Yat-sen University in October 2021 were selected as study subjects....

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PMID: 42663024
DOI: 10.3760/cma.j.cn511374-20240418-00241

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