Fragile X syndrome: clinical and cytogenetic studies
Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepubertal subjects the behavioral characteristics as hyperactivity and poor eye contact were the most frequent and were observed in all patients. Twenty six percent of the heterozygous women presented with mental retardation and showed clinical signs rather than behavioral ones. All male individuals with mental retardation were observed as having fragile X [fra(X)] in lymphocytes culture. Sixty three percent of women showed fra(X). There was a positive correlation between the frequency of fra(X) and the clinical characteristics. We emphasize the importance of the clinical evaluation in the study of familial mental retardation and in the screening of isolated cases with suspect of having the fragile X syndrome.
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Academia Brasileira de Neurologia - ABNEURO
1998
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oai:scielo:S0004-282X19980001000022000-11-17Fragile X syndrome: clinical and cytogenetic studiesFÉLIX,TÊMIS MARIAPINA-NETO,JOÃO MONTEIRO DE fragile X syndrome mental retardation X-linked mental retardation Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepubertal subjects the behavioral characteristics as hyperactivity and poor eye contact were the most frequent and were observed in all patients. Twenty six percent of the heterozygous women presented with mental retardation and showed clinical signs rather than behavioral ones. All male individuals with mental retardation were observed as having fragile X [fra(X)] in lymphocytes culture. Sixty three percent of women showed fra(X). There was a positive correlation between the frequency of fra(X) and the clinical characteristics. We emphasize the importance of the clinical evaluation in the study of familial mental retardation and in the screening of isolated cases with suspect of having the fragile X syndrome.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.56 n.1 19981998-03-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100002en10.1590/S0004-282X1998000100002 |
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FÉLIX,TÊMIS MARIA PINA-NETO,JOÃO MONTEIRO DE |
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FÉLIX,TÊMIS MARIA PINA-NETO,JOÃO MONTEIRO DE Fragile X syndrome: clinical and cytogenetic studies |
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FÉLIX,TÊMIS MARIA PINA-NETO,JOÃO MONTEIRO DE |
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FÉLIX,TÊMIS MARIA |
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Fragile X syndrome: clinical and cytogenetic studies |
title_short |
Fragile X syndrome: clinical and cytogenetic studies |
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Fragile X syndrome: clinical and cytogenetic studies |
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Fragile X syndrome: clinical and cytogenetic studies |
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Fragile X syndrome: clinical and cytogenetic studies |
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fragile x syndrome: clinical and cytogenetic studies |
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Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women. The clinical evaluation, IQ level measurements and cytogenetic studies were performed in 40 subjects, 20 males and 20 females. The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepubertal subjects the behavioral characteristics as hyperactivity and poor eye contact were the most frequent and were observed in all patients. Twenty six percent of the heterozygous women presented with mental retardation and showed clinical signs rather than behavioral ones. All male individuals with mental retardation were observed as having fragile X [fra(X)] in lymphocytes culture. Sixty three percent of women showed fra(X). There was a positive correlation between the frequency of fra(X) and the clinical characteristics. We emphasize the importance of the clinical evaluation in the study of familial mental retardation and in the screening of isolated cases with suspect of having the fragile X syndrome. |
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Academia Brasileira de Neurologia - ABNEURO |
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1998 |
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http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X1998000100002 |
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AT felixtemismaria fragilexsyndromeclinicalandcytogeneticstudies AT pinanetojoaomonteirode fragilexsyndromeclinicalandcytogeneticstudies |
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1756374083440738304 |