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Article

[Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2014

Xue Huiqin, Sun Xiayu, Lu Hongyong, Zhou Yan, Guo Yuezhen, Zhu Lei

Abstract excerpt

OBJECTIVE: To determine the origin of chromosomal aberration for a child featuring multiple malformation, and to correlate the genotype with phenotype. METHODS: Routine G-banding was performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) was used for fine mapping of the aberrant region. RESULTS: The karyotype of the child was ascertained as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24510564
DOI: 10.3760/cma.j.issn.1003-9406.2014.01.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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