Clinical screening score for the fragile X (Martin-Bell) syndrome

Am J Med Genet. Feb-Mar 1991;38(2-3):256-9. doi: 10.1002/ajmg.1320380219.


A clinical score based on the manifestations of the fragile(X) syndrome has been formulated and applied to all individuals included in a fragile(X) case finding program in New South Wales. The total score can vary from 0 to 10. Individuals are scored 0, 1, or 2 in each of 5 categories considered indicative of the fragile(X) phenotype: family history of intellectual handicap, face length, ear configuration, personality, and body habitus. In a study of 1,206 individuals where the clinical scores were prospective (i.e., they had been given before the cytogenetic results were known) the percentage of those with the fragile(X) increased from 0.6% of those with scores of 4 or less to 14.6% with scores 5-7 and to 67% of those with scores 8-10. We have found the score simple to use in the circumstances where screening takes place (sheltered workshops and schools) and have reduced the number of individuals tested cytogenetically by 45%.

Publication types

  • Comparative Study

MeSH terms

  • Cross-Sectional Studies
  • Evaluation Studies as Topic
  • Female
  • Fragile X Syndrome / diagnosis*
  • Fragile X Syndrome / epidemiology
  • Genetic Testing / methods*
  • Humans
  • Intellectual Disability / etiology
  • Male
  • New South Wales / epidemiology
  • Phenotype
  • Physical Examination
  • Predictive Value of Tests