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

Autor: Leme, D. E S [UNESP], Souza, D. H. [UNESP], Mercado, G., Pastene, E., Dias, Adriano [UNESP], Moretti-Ferreira, D. [UNESP]
Přispěvatelé: Universidade Estadual Paulista (Unesp), Administración Nacional de Laboratorios e Institutos de Salud
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
Popis: Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:30:44Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:32:59Z : No. of bitstreams: 1 2-s2.0-84884226340.pdf: 250988 bytes, checksum: 8b9f2a6be971109ac60c79125f145acd (MD5) Made available in DSpace on 2014-05-27T11:30:44Z (GMT). No. of bitstreams: 0 Previous issue date: 2013-09-23 Williams-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. Serviço de Aconselhamento Genético Departamento de Genética Instituto de Biociências de Botucatu, Universidade Estadual Paulista, Botucatu, SP Centro Nacional de Genética Médica Administración Nacional de Laboratorios e Institutos de Salud, Buenos Aires Departamento de Saúde Pública Universidade Estadual Paulista, Botucatu, SP Serviço de Aconselhamento Genético Departamento de Genética Instituto de Biociências de Botucatu, Universidade Estadual Paulista, Botucatu, SP Departamento de Saúde Pública Universidade Estadual Paulista, Botucatu, SP
Databáze: OpenAIRE
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