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| Trovó-Marqui,A.B.; Goloni-Bertollo,E.M.; Valério,N.I.; Pavarino-Bertelli,E.C.; Muniz,M.P.; Teixeira,M.F.; Antonio,J.R.; Tajara,E.H.. |
| A clinical study of Brazilian patients with neurofibromatosis type 1 (NF1) was performed in a multidisciplinary Neurofibromatosis Program called CEPAN (Center of Research and Service in Neurofibromatosis). Among 55 patients (60% females, 40% males) who met the NIH criteria for the diagnosis of NF1, 98% had more than six café-au-lait patches, 94.5% had axillary freckling, 45% had inguinal freckling, and 87.5% had Lisch nodules. Cutaneous neurofibromas were observed in 96%, and 40% presented plexiform neurofibromas. A positive family history of NF1 was found in 60%, and mental retardation occurred in 35%. Some degree of scoliosis was noted in 49%, 51% had macrocephaly, 40% had short stature, 76% had learning difficulties, and 2% had optic gliomas.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Neurofibromatosis type I; Plexiform neurofibroma; Mental retardation; Learning difficulties; Scoliosis. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2005000900020 |
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| Diego,Yolanda de; Hmadcha,Abdelkrim; Moron,Francisco; Lucas,Miguel; Carrasco,Mercedes; Pintado,Elizabeth. |
| Fragile X syndrome is the most common inherited form of mental retardation. We investigated the prevalence of the Fragile X syndrome in the population with mental retardation of unknown etiology in Andalusia, South Spain. We analyzed 322 unrelated patients (280 males and 42 females), and found a fragile X syndrome frequency of 6.5%. Among the non-fragile X chromosomes, the 29 CGG repeat was the most common allele. At the linked microsatellite DXS548 locus, we found a new allele which we called "allele 10" (17 CA). Similar to other south European populations, allele 2 (25 CA) at the DXS548 locus and the fragile X allele were in linkage disequilibrium supporting the idea of a common founder chromosome predisposing to the CGG expansion. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Mental retardation; Fragile X syndrome; CGG repeats; Genetic screening. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000100002 |
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