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[Clinical phenotype and genetic analysis of MECP2 duplication syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021

Chen Duo, Wang Luxun, Hou Yaqin, Shi Panlai, Qin Guijun, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To analyze the clinical symptom and parental origin of patients with MECP2 duplication syndrome in order to provide a basis for genetic counseling and prenatal diagnosis. METHODS: Clinical symptoms of four patients who were diagnosed with MECP2 duplication syndrome by copy number variation sequencing (CNV-Seq) were reviewed. The maternal origin of the duplications were verified. RESULTS: All patients...

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Chromosomes, Human, X
DNA Copy Number Variations
Gene Duplication
Methyl-CpG-Binding Protein 2
Phenotype

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PMID: 34839504
DOI: 10.3760/cma.j.cn511374-20200603-00407

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