In a population of 340000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (>16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993.
Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome.
The other 344 males were screened for the fragile X syndrome using a three-step method : a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA-locus gene test.
Six new fragile X males were found.
The minimum prevalence of the fragile X syndrome in the district was calculated to be 1 : 4400.
Mots-clés Pascal : X fragile syndrome, Homme, Dépistage, Mâle, Finlande, Europe, Fragilité chromosomique
Mots-clés Pascal anglais : Fragile X syndrome, Human, Medical screening, Male, Finland, Europe, Chromosome fragility
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 97-0538539
Code Inist : 002B23C. Création : 24/03/1998.