Fragile-X syndrome (FXS) is the most common cause of inherited intellectual disability.
Although FXS has been identified in all the main ethnic groups, little is known about its prevalence with respect to ethnicity.
Since the identification of the FXS primary defect, diagnosis involving DNA analysis has been made possible, allowing efficient screening strategies to be considered.
The present authors have carried out FXS screening among children belonging mainly to the Afro-Caribbean ethnic group (163 boys and 85 girls) affected with moderate to severe intellectual disability of previously unknown origin.
We have found a 6.7% and 0% prevalence among boys and girls, respectively, yielding a minimum FXS incidence of 0.42 per 1000 male births per year.
Family studies have resulted in genetic counselling for several individuals.
FRAXE screening was also achieved and no FRAXE case was detected in this study.
Mots-clés Pascal : Arriération mentale, Association morbide, X fragile syndrome, Prévalence, Epidémiologie, Bassin Caraïbe, Amérique, Antilles, Amérique Centrale, Guadeloupe, Homme, Déficience intellectuelle, Trouble développement, Fragilité chromosomique
Mots-clés Pascal anglais : Mental retardation, Concomitant disease, Fragile X syndrome, Prevalence, Epidemiology, Caribbean Basin, America, West Indies, Central America, Guadeloupe, Human, Intellectual deficiency, Developmental disorder, Chromosome fragility
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0166679
Code Inist : 002B18D04A. Création : 21/07/1998.