| A survey of fragile X syndrome in a sample from Spanish Basque country. | |
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MedLine Citation:
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PMID: 10674158 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Fragile X syndrome is the most common inherited form of mental retardation. The syndrome is associated with a CGG repeat expansion in the 5'UTR of the first exon of the FMR1 gene. This gene maps to Xq27.3 and coincides with the cytogenetic fragile site (FRAXA). The present study deals with the prevalence of fragile X syndrome among individuals with mental retardation of unknown cause from institutions and special schools from the Spanish Basque Country. Results of cytogenetic and molecular studies, performed in a group of 134 unrelated individuals (92 males and 42 females) are presented. The cytogenetic marker at Xq27.3 was identified in 12 patients. Other chromosomal abnormalities were found in two cases that this and previous studies confirmed as Angelman and Prader-Willi syndromes. Two males, in whom the cytogenetic marker was identified, were found negative for FRAXA and FRAXE expansion at the molecular level. The present study shows that the frequency of the FRAXA full mutation in individuals of Spanish non-Basque origin is in the range of other Spanish populations. In the sample of Spanish Basque origin we have not found cytogenetic FRAXA site expression, and the CGG repeat size of FMR1 gene is in the normal range. The significance of these results are discussed. |
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Authors:
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I Arrieta; B Criado; B Martinez; M Telez; T Nuñez; O Peñagarikano; B Ortega; C M Lostao |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Annales de génétique Volume: 42 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1999 |
Date Detail:
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Created Date: 2000-03-06 Completed Date: 2000-03-06 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: FRANCE |
Other Details:
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Languages: eng Pagination: 197-201 Citation Subset: IM |
Affiliation:
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Departmento de Biologia Animal y Genética, Facultad de Ciencias, Universidad del Pais Vasco, bilbao, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Chromosome Mapping Ethnic Groups / genetics Female Fragile X Syndrome / epidemiology*, genetics Humans Male Mental Retardation / complications, epidemiology*, genetics Middle Aged Prevalence Sex Characteristics Spain / epidemiology X Chromosome |
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