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Article

[Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case].

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

Li Jiao, Du Juan, Fu Huayu, Wang Jin, Yu Zhou

Abstract excerpt

OBJECTIVE: To apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient. METHODS: Chromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation. RESULTS: The karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her...

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Source

Identifiers

PMID: 27455008
DOI: 10.3760/cma.j.issn.1003-9406.2016.04.017

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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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