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| Longhitano,Silvia Bragagnolo; Brunoni,Décio. |
| We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000100004 |
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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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