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

Clin Genet. 1997 Oct;52(4):211-5. doi: 10.1111/j.1399-0004.1997.tb02549.x.


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.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Algorithms*
  • Finland / epidemiology
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / epidemiology*
  • Fragile X Syndrome / genetics
  • Gene Frequency
  • Genetic Testing / methods*
  • Humans
  • Intellectual Disability / epidemiology
  • Intellectual Disability / genetics
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Phenotype
  • Prevalence
  • RNA-Binding Proteins*


  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein