Rechercher du syndrome de l'x fragile par hybridation moleculaire chez 29 familles de retard mental hereditaire

ABSTRACT

The diagnosis of the fragile X syndrome was based on the detection of the fragile site by cytogenetic analysis, which is not completely reliable. Since 1991, a new diagnosis test have been described which detect mutation in the FMR-1 gene responsible for the mental retardation and the various somatic signs. In the present study, we show by Southern Blot and hybridation that 3 from 29 families had fragile X syndrome. Three profiles have been identified normal, premutation and full mutation. We propose the use of the molecular approach to detect systematically the fragile Xmutation in boys or girls with unexplained mental retardation and for prenatal diagnosis