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[Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2015

Jin Yuxia, Liu Xia, Li Suping, Ge Jiamei, Wu Xiufang, Song Qinhao, Zhou Chiyan, Miao Zhengyou

Abstract excerpt

OBJECTIVE: To explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype. METHODS: Routine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to...

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Identifiers

PMID: 26252101
DOI: 10.3760/cma.j.issn.1003-9406.2015.04.018

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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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