| Klinefelter syndrome and associated fragile-X syndrome. | |
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MedLine Citation:
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PMID: 3585988 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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During screening of male individuals for Fragile-X syndrome in a residential facility for persons with mental retardation, the authors found a 21-year-old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile-X syndrome. The chromosome analysis revealed 47,fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X chromosomes with a fragile site. Her two sons, who were subsequently examined, were found to have Fragile-X syndrome. Thus, the identification of Fragile-X syndrome in the proband during the screening process of a large institution led to the investigation of the proband's family and the subsequent diagnosis of Fragile-X syndrome in the proband's two nephews. The ascertainment of the two affected boys permitted prompt introduction of early intervention and special education services. Genetic counselling of other at-risk family members was carried out. |
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Authors:
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S M Pueschel; M M O'Brien; T Padre-Mendoza |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of mental deficiency research Volume: 31 ( Pt 1) ISSN: 0022-264X ISO Abbreviation: J Ment Defic Res Publication Date: 1987 Mar |
Date Detail:
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Created Date: 1987-07-14 Completed Date: 1987-07-14 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0375401 Medline TA: J Ment Defic Res Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 73-9 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child, Preschool Fragile X Syndrome / complications, genetics* Humans Infant Klinefelter Syndrome / complications* Male Pedigree Sex Chromosome Aberrations / genetics* |
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