Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/1966
Title: | Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome | Authors: | Leme, D E S Souza, D H Mercado, Graciela Pastene, E. A. Dias, A Moretti-Ferreira, D |
Keywords: | Síndrome de Williams;Hibridación Fluorescente in Situ;Cromosomas Humanos Par 7 | Issue Date: | 4-Sep-2013 | Journal: | Genetics and molecular research | Abstract: | 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. |
Description: | 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. |
URI: | https://www.geneticsmr.com/articles/2399 http://sgc.anlis.gob.ar/handle/123456789/1966 |
DOI: | https://doi.org/10.4238/2013.September.4.7 | Rights: | Open Access Creative Commons Attribution 4.0 International License |
Appears in Collections: | Publicaciones CeNaGeM |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
GMR_2013_12_3_3407-3411.pdf | Artículo en inglés | 245.11 kB | Adobe PDF | View/Open |
Page view(s)
73
checked on Oct 15, 2024
Download(s)
5
checked on Oct 15, 2024
Google ScholarTM
Check
Altmetric
Altmetric
This item is licensed under a Creative Commons License