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Article

[A case of Wolf-Hirschhorn syndrome diagnosed by single nucleotide polymorphism array].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2016

Jin Yuxia, Liu Xia, Li Suping, Zhou Chiyan, Liu Xiaodan, Song Qinhao, Wang Luming, Miao Zhengyou

Abstract excerpt

OBJECTIVE: To explore the genetic causes for a child with multiple congenital malformations and epilepsy through analysis of copy number variations, and to correlate the genotype with the phenotype. METHODS: G-banding karyotyping was performed on the child and her parents. Single nucleotide polymorphisms array (SNP-array) was used to map the exact chromosomal breakpoints in the proband. The result was validated...

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Share to Chromosome Banding
Share to In Situ Hybridization, Fluorescence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27455007
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.016

Provenance

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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