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 |
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Elsevier Science
November/December 1994
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ssf&AN=512489400&site=ehost-live header: @attributes: shortDbName: ssf uiTerm: 512489400 longDbName: Social Sciences Full Text (H.W. Wilson) uiTag: AN controlInfo: bkinfo: jinfo: jid: 08908567 JAM jtl: Journal of the American Academy of Child & Adolescent Psychiatry issn: 08908567 maglogo: N pubinfo: dt: November/December 1994 vid: 33 pid: 467 pub: Elsevier Science artinfo: ui: 512489400 10.1097/00004583-199411000-00014 ppf: 1316 ppct: 6 formats: tig: atl: Fragile X syndrome in a normal IQ male with learning and emotional problems. aug: au: Merenstein, Scott A. Shyu, Vivian Sobesky, William E. su: Behavior genetics Fragile X syndrome People with mental illness Case studies sug: subj: Behavior genetics Fragile X syndrome People with mental illness Case studies ab: 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. pubtype: Academic Journal doctype: Article src: R language: English refInfo: copyright: @attributes: flag: N holdings: @attributes: islocal: N |
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