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Article

[Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020

Xu Xiaocha, Zhang Ting, Shen Yaping, Zheng Jing, Yang Rulai

Abstract excerpt

OBJECTIVE: To explore the basis for a child with multiple malformations and correlate her genotype with phenotype. METHODS: The child was subjected to G-banding chromosomal analysis first, and low-coverage massively parallel copy number variation sequencing (CNV-seq) was used to define the aberrant region. The results were verified by fluorescence in situ hybridization (FISH). RESULTS: The child was found to have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32034748
DOI: 10.3760/cma.j.issn.1003-9406.2020.02.018

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