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Clin Genet. 1997 Oct;52(4):211-5.

Applicability of a checklist for clinical screening of the fragile X syndrome.

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Pääjärvi Centre, Lammi, Hospital for Children and Adolescents, Pediatric Neurology, University of Helsinki, Finland.


In a population of 340,000 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.

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