Fragile X syndrome in a normal IQ male with learning and emotional problems.
A case study is presented of an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. Fragile X syndrome is the principal inherited cause of mental retardation and stems from a trinucleotide repeat mutation in the FMR1 gene, lea...
| Publicado en: | Journal of the American Academy of Child & Adolescent Psychiatry Vol. 33; pp. 1316 - 1322 |
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| Autores principales: | , , |
| Formato: | Artículo |
| Publicado: |
Elsevier Science
November/December 1994
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| Acceso en línea: | Ver este registro en EBSCOhost |
| Sumario: | A case study is presented of an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. Fragile X syndrome is the principal inherited cause of mental retardation and stems from a trinucleotide repeat mutation in the FMR1 gene, leading to the typical Martin-Bell phenotype and cognitive impairment. The subject presented with a Full Scale IQ within the broad range of normal. He was diagnosed with schizotypal personality disorder and demonstrated significant deficits in the social and emotional aspects of daily life. However, he possessed striking cognitive strengths relating to reading and vocabulary as compared to most males with this syndrome. It is believed that his strong cognitive abilities were a result of the near complete lack of methylation of the fully expanded FMR1 CGG repeat mutation and the resultant expression of the FMR1 protein. |
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