title: Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies.
abstract: 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.
authors.affiliation: INSERM U 359, CHU de Pointe-à-Pitre, Pointe-à-Pitre, Guadeloupe, France.
authors.forename: A
authors.initials: A
authors.lastname: Elbaz
authors.forename: J
authors.initials: J
authors.lastname: Suédois
authors.forename: M
authors.initials: M
authors.lastname: Duquesnoy
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: C
authors.initials: C
authors.lastname: Berchel
authors.forename: G
authors.initials: G
authors.lastname: Mérault
mesh_terms: D000293:Adolescent; D001741:Black or African American / Q000523:psychology / Q000706:statistics & numerical data*; D044383:Black People / Q000235:genetics; D015139:Blotting, Southern; D002648:Child; D002873:Chromosome Fragility; D003430:Cross-Sectional Studies; D005240:Feasibility Studies; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D019430:Guadeloupe / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D008607:Intellectual Disability / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction