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

Genetics and Molecular Biology

Denise M. Christofolini¹  Monica V.n. Lipay¹  Marco Antonio P. Ramos¹  Silvia S. Costa²  Fernanda T.s. Bellucco¹  Sintia I. Nogueira¹  Leslie D. Kulikowski¹  Décio Brunoni¹  Maria Isabel Melaragno¹ 

[1] ,Universidade Federal de São PauloSão Paulo SP ,Brazil

关键词: FMR1 gene;    fragile X syndrome checklist;    molecular methods;    X-linked mental retardation;   

DOI  :  10.1590/S1415-47572007000600002

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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