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[Genetic analysis of a Chinese pedigree affected with overgrowth syndrome due to a small supernumerary marker chromosome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2023

Jin Yuxia, Li Suping

Abstract excerpt

OBJECTIVE: To carry out genetic analysis for a Chinese pedigree affected with intellectual disability and overgrowth due to a supernumerary marker chromosome (sSMC). METHODS: A pedigree which had presented at Jiaxing Maternity and Child Health Care Hospital on August 31, 2021 was selected as the study subject, for which chromosomal karyotyping, single nucleotide polymorphism-based microarray (SNP-array), and...

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Identifiers

PMID: 37906154
DOI: 10.3760/cma.j.cn511374-20220225-00126

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