Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome

Autor Christofolini, Denise Maria Autor UNIFESP Google Scholar
Lipay, Monica Vanucci Nunes Autor UNIFESP Google Scholar
Ramos, Marco Antonio P. Autor UNIFESP Google Scholar
Costa, Silvia S. Google Scholar
Bellucco, Fernanda Teixeira da Silva Autor UNIFESP Google Scholar
Belangero, Sintia Iole Autor UNIFESP Google Scholar
Kulikowski, Leslie Domenici Autor UNIFESP Google Scholar
Brunoni, Decio Autor UNIFESP Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Resumo Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary. The use of clinical checklists in mentally retarded individuals can help selecting patients to be given priority in the molecular investigation for the fragile-X mutation in the FMR1 gene. We evaluated two clinical checklists in a sample of 200 Brazilian male patients with mental retardation. The highest scores in the two checklists concentrated among the 19 males (9.5%) found to carry full mutations. Our results confirm the importance of fragile-X checklists as a clinical tool in the study of mentally retarded patients.
Palavra-chave FMR1 gene
fragile X syndrome checklist
molecular methods
X-linked mental retardation
Idioma Inglês
Financiador Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Data de publicação 2007-01-01
Publicado em Genetics and Molecular Biology. Sociedade Brasileira de Genética, v. 30, n. 4, p. 1047-1050, 2007.
ISSN 1415-4757 (Sherpa/Romeo, fator de impacto)
Publicador Sociedade Brasileira de Genética
Extensão 1047-1050
Fonte http://dx.doi.org/10.1590/S1415-47572007000600002
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000251771400002
SciELO S1415-47572007000600002 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/3450

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