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Article

[Clinical phenotype and genetic analysis of a child with partial duplication of 10q and a literature review].

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

Zheng Anshun, Yin Ting, Zheng Qin, Zhang Rong, Wang Yongan, Ma Shanshan, Zhao Yali, Wang Leilei

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and pathogenesis of a child with partial duplication in the long arm of chromosome 10 (10q), and conduct a review of relevant literature. METHODS: A child presented at Lianyungang Maternal and Child Health Care Hospital in April 2018 for growth retardation, intellectual disability, and autism spectrum disorder (ASD) was selected as the study subject. Peripheral blood...

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Identifiers

PMID: 39528289
DOI: 10.3760/cma.j.cn511374-20231211-00314

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