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Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.

Cytogenetic and genome research - 1 Jan 2019

Kuo Haung-Tsung, Chen Chieh-Ho, Lin Chien-Yu, Chang Ya-Sian, Chang Jan-Gowth

Abstract excerpt

Williams-Beuren Syndrome (WBS; OMIM #194050) is a rare neurodevelopmental disorder that results from a deletion at 7q11.23 spanning 25-27 genes. We performed chromosomal microarray analysis (CMA) in 9 Taiwanese patients with WBS to confirm the diagnosis. These samples had already been examined by FISH and diagnosed as WBS. Pathogenic copy number variations (CNVs) were identified in all patients, including 24...

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Identifiers

PMID: 31931504
DOI: 10.1159/000505282

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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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