| Applicability of a checklist for clinical screening of the fragile X syndrome. | |
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MedLine Citation:
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PMID: 9383025 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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In a population of 340,000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (> 16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993. Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome. The other 344 males were screened for the fragile X syndrome using a three-step method: a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA-locus gene test. Six new fragile X males were found. The minimum prevalence of the fragile X syndrome in the district was calculated to be 1:4400. |
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Authors:
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M Arvio; M Peippo; K O Simola |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 52 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 1997 Oct |
Date Detail:
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Created Date: 1998-01-21 Completed Date: 1998-01-21 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: DENMARK |
Other Details:
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Languages: eng Pagination: 211-5 Citation Subset: IM |
Affiliation:
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Pääjärvi Centre, Lammi, Hospital for Children and Adolescents, Pediatric Neurology, University of Helsinki, Finland. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Algorithms* Finland / epidemiology Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis, epidemiology*, genetics Gene Frequency Genetic Testing / methods* Humans Male Mental Retardation / epidemiology, genetics Middle Aged Nerve Tissue Proteins / genetics* Phenotype Prevalence RNA-Binding Proteins* |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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