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| Christofolini,Denise M.; Lipay,Monica V.N.; Ramos,Marco Antonio P.; Costa,Silvia S.; Bellucco,Fernanda T.S.; Nogueira,Sintia I.; Kulikowski,Leslie D.; Brunoni,Décio; Melaragno,Maria Isabel. |
| 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... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: FMR1 gene; Fragile X syndrome checklist; Molecular methods; X-linked mental retardation. |
| Ano: 2007 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000600002 |
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| Capelli,Leonardo P.; Mingroni-Netto,Regina C.; Vianna-Morgante,Angela M.. |
| In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions. Sixty-eight alleles fell within the common range with 20-40 CGG repeats, and seven alleles were intermediate, with 41-48 repeats. No change was observed either in the length or in the structure of these repeats upon transmission. Fifty-three alleles were ascertained in different families, and their size distribution was similar to those described for European and European-derived populations, with three peaks of frequency: 66% of the alleles with (CGG)29, (CGG)30 or (CGG)31, 7.5% with (CGG)20, and 5.7% with (CGG)23. Regarding the AGG interspersion pattern, 69.8% had two... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: FMR1 gene; CGG repeat; Fragile X. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100002 |
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