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 ...

Verfasser: Vries, B.B.A. (Bert) de
Oostra, B.A. (Ben)
Niermeijer, M.F. (Martinus)
Tibben, A. (Arend)
Ouweland, A.M.W. (Ans) van den
Mohkamsing, S.
Duivenvoorden, H.J. (Hugo)
Mol, E.
Gelsema, K.
Rijn, M. van
Halley, D.J.J. (Dicky)
Sandkuijl, L.A. (Lodewijk)
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
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Link(s) : http://repub.eur.nl/pub/8723