ArticleBioMed research international2015
Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
Article in BioMed research international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Williams-Beuren syndrome in diverse populations.American journal of medical genetics. Part A · 2018Pooled it
- Occurrence of Emphysema in Individuals With Williams-Beuren Syndrome: A Narrative Review.CHEST pulmonary · 2025Article
- Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.European journal of pediatrics · 2024Article
- Williams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.BMJ case reports · 2024Article
- Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study.Molecular genetics & genomic medicine · 2022Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.Molecular genetics & genomic medicine · 2019Article
- Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.Molecular cytogenetics · 2019Article
- [Association between Williams syndrome and adrenal insufficiency].The Pan African medical journal · 2017Article
- Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".BioMed research international · 2015Article
Corrections and comments
- Erratum issued
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome (WBS) is a genetic disease caused by a microdeletion in the 7q11.23 region. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Objectives. To report the clinical findings of 55 Brazilian patients confirmed by multiplex ligation-dependent probe amplification (MLPA). Methods. Patients were followed up for 4 years at the Genetics Unit of the Instituto da Criança of the Hospital das Clínicas, FMUSP, Brazil. A kit specific for WBS was used to detect the 7q11.23 microdeletion. Results. Two patients with negative FISH results had positive MLPA results for WBS. The characteristics of the patients with the deletion were as follows: typical WBS facies (98.2%), neuropsychomotor delay (98.2%), hypersocial behavior (94.5%), hyperacusis (94.5%), and congenital heart disease (81.8%). Conclusions. MLPA was effective in detecting the microdeletion in the 7q11.23 region to confirm the diagnosis of WBS. MLPA was also able to confirm the diagnosis of WBS in two patients with typical clinical characteristics but negative FISH results. Thus, MLPA is a promising method in the diagnostic investigation of WBS. WBS is a multisystemic disorder and therefore requires multidisciplinary care and specific follow-up to prevent complications.
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