ArticleMolecular syndromology2016
Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.
Article in Molecular syndromology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 21 citations in OpenAlex.
- Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.Frontiers in pediatrics · 2023Article
- Copy number variation analysis in Chinese children with complete atrioventricular canal and single ventricle.BMC medical genomics · 2021Article
- 8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature.Genes · 2021Article
- Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.Frontiers in immunology · 2021Article
- Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.Journal of genetics · 2019Article
- Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.Molecular genetics & genomic medicine · 2019Article
- CGH analysis in Colombian patients: findings of 1374 arrays in a seven-year study.Molecular cytogenetics · 2018Article
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6 authors at 2 institutions in 1 country.
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Abstract
Williams-Beuren syndrome (WBS) manifests as supravalvular aortic stenosis, intellectual disability, developmental delay and characteristic facial features. The common WBS deletion region ranges from 1.55 to 1.84 Mb and primarily contains the ELN gene. We analyzed 10 patients diagnosed with 7q11.23 microdeletion syndrome by chromosomal microarray analysis. The clinical features of these patients varied from classic WBS to normal phenotype. All 10 patients exhibited different sizes and breakpoints of chromosome microdeletions ranging from 44 kb to 9.88 Mb. The hemizygosity of the ELN gene was detected in 7 patients, while a normal ELN gene was present in 3 other patients with small deletions. We observed that the phenotypic features of WBS varied in fetuses, children and adults, influenced by the genes, deletion size and breakpoint. Our findings provide more information on the genotype-phenotype correlations of WBS. However, further research is needed to explore the size and breakpoint effect and functions of the genes on chromosome 7q11.23.
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