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[Clinical and genetic analysis of a case with 2p23.2p22.1 duplication].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2024

Gu Leilei, Zhu Xiangyu, Liu Wei, Li Jie

Abstract excerpt

OBJECTIVE: To report on the phenotype of an adult patient with 2p23.2p22.1 duplication and explore its genotype-phenotype correlation. METHODS: A pregnant woman who had presented at the Affiliated Drum Tower Hospital of Nanjing University Medical School on January 12, 2024 for a high risk signaled by NIPT was selected as the study subject. Amniotic fluid and peripheral blood samples were collected and subjected...

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PMID: 39653357
DOI: 10.3760/cma.j.cn511374-20240628-00359

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