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

• Autores: Leme, D E S; Souza, D H; Mercado, Graciela; Pastene, E. A.; Dias, A; Moretti-Ferreira, D
• Año de publicación: 2013
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: Síndrome de Williams; Hibridación Fluorescente in Situ; Cromosomas Humanos Par 7
• Institución: Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"

Fil: Leme, D. E. S. Universidade Estadual Paulista. Instituto de Biociencias de Botucatu. Departamento de Genética. Servico de Aconselhamento Genético; Brasil.
Fil: Souza, D. H. Universidade Estadual Paulista. Instituto de Biociencias de Botucatu. Departamento de Genética. Servico de Aconselhamento Genético; Brasil.
Fil: Mercado, Graciela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Pastene, E. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Dias, A. Universidade Estadual Paulista. Faculdade de Medicina de Botucatu. Departamento de Saúde Pública; Brasil.
Fil: Moretti-Ferreira, D. Universidade Estadual Paulista. Instituto de Biociencias de Botucatu. Departamento de Genética. Servico de Aconselhamento Genético; Brasil.
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.