Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for diagnosis of this disorder on a large scale in all affected individuals. A screening for the fragile X syndrome has been conducted in a representative sample of 3,352 individuals in schools and institutes for the mentally retarded in the southwestern Netherlands, by use of a brief physical examination and the DNA test. The attitudes and reactions of... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 1997 |
Schlagwörter: | *RNA-Binding Proteins / Adolescent / Adult / Aged / 80 and over / Child / Preschool / DNA/blood / Female / Fragile X Mental Retardation Protein / Fragile X Syndrome/*diagnosis/*epidemiology/genetics / Genetic Screening/methods/*psychology / Humans / Male / Middle Aged / Nerve Tissue Proteins/genetics / Netherlands/epidemiology / Patient Participation / Polymerase Chain Reaction/methods / Prevalence / Schools / Sensitivity and Specificity |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-29199628 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://repub.eur.nl/pub/8723 |