Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

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dc.contributor.authorLeme, D. E S [UNESP]
dc.contributor.authorSouza, D. H. [UNESP]
dc.contributor.authorMercado, G.
dc.contributor.authorPastene, E.
dc.contributor.authorDias, Adriano [UNESP]
dc.contributor.authorMoretti-Ferreira, D. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionAdministración Nacional de Laboratorios e Institutos de Salud
dc.date.accessioned2014-05-27T11:30:44Z
dc.date.available2014-05-27T11:30:44Z
dc.date.issued2013-09-23
dc.description.abstractWilliams-Beuren syndrome (WBS) is a genetic disorder characterized by physical and intellectual developmental delay, associated with congenital heart disease and facial dysmorphism. WBS is caused by a microdeletion on chromosome 7 (7q11.23), which encompasses the elastin (ELN) gene and about 27 other genes. The gold standard for WBS laboratory diagnosis is FISH (fluorescence in situ hybridization), which is very costly. As a possible alternative, we investigated the accuracy of three clinical diagnostic scoring systems in 250 patients with WBS diagnosed by FISH. We concluded that all three systems could be used for the clinical diagnosis of WBS, but they all gave a low percentage of false-positive (6.0-9.2%) and false-negative (0.8-4.0%) results. Therefore, their use should be associated with FISH testing. © FUNPEC-RP.en
dc.description.affiliationServiço de Aconselhamento Genético Departamento de Genética Instituto de Biociências de Botucatu, Universidade Estadual Paulista, Botucatu, SP
dc.description.affiliationCentro Nacional de Genética Médica Administración Nacional de Laboratorios e Institutos de Salud, Buenos Aires
dc.description.affiliationDepartamento de Saúde Pública Universidade Estadual Paulista, Botucatu, SP
dc.description.affiliationUnespServiço de Aconselhamento Genético Departamento de Genética Instituto de Biociências de Botucatu, Universidade Estadual Paulista, Botucatu, SP
dc.description.affiliationUnespDepartamento de Saúde Pública Universidade Estadual Paulista, Botucatu, SP
dc.format.extent3407-3411
dc.identifierhttp://dx.doi.org/10.4238/2013.September.4.7
dc.identifier.citationGenetics and Molecular Research, v. 12, n. 3, p. 3407-3411, 2013.
dc.identifier.doi10.4238/2013.September.4.7
dc.identifier.file2-s2.0-84884226340.pdf
dc.identifier.issn1676-5680
dc.identifier.lattes2966846406062836
dc.identifier.orcid0000-0001-6895-372X
dc.identifier.scopus2-s2.0-84884226340
dc.identifier.urihttp://hdl.handle.net/11449/76625
dc.identifier.wosWOS:000331717400131
dc.language.isoeng
dc.relation.ispartofGenetics and Molecular Research
dc.relation.ispartofsjr0,439
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectChromosome 7
dc.subjectClinical diagnosis
dc.subjectElastin (ELN) gene
dc.subjectFluorescence in situ hybridization
dc.subjectWilliams-Beuren syndrome
dc.titleAssessment of clinical scoring systems for the diagnosis of Williams-Beuren syndromeen
dc.typeArtigo
dcterms.licensehttp://geneticsmr.com/node/2
unesp.author.lattes2966846406062836[5]
unesp.author.orcid0000-0001-6895-372X[5]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt

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