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Case report

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

Yi-Juan Huang Yuan-Qiu Chen Shao-Bin Lin Zhiqiang Zhang Chen-Yu Gou Si Li Xiao-Hong Wang Tong-Tong Chen Yu Gao Weiying Jiang
Sep 2026 · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Vol 43 9, pp. 688-692 · 0 citations
Medicine

TL;DR

The proband has harbored a complex balanced translocation involving four non-homologous chromosomes in a Chinese pedigree using optical genomic mapping (OGM), which has demonstrated certain advantages in characterization of complex chromosomal structural abnormalities.

DOI PubMed Semantic Scholar
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