Screening developmentally disabled male populations for fragile X: the effect of sample size

Am J Med Genet. 1988 May-Jun;30(1-2):655-63. doi: 10.1002/ajmg.1320300166.

Abstract

The fra(X) or Martin-Bell syndrome is the most common cause of inherited mental retardation (MR) in males. It is also associated with a variety of unusual behavioral and developmental disorders. Recent studies found great variability in the estimated strength of association between "autism" and the fra(X) syndrome, but not between MR and fra(X). We examined 31 studies which investigated the association of fra(X) syndrome with either MR or "autism" and found that the conclusion of those researchers could be significantly affected by sample size. Different behavioral and cytogenetic protocols will also influence the strength of association between fra(X) and autism.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Autistic Disorder / complications
  • Autistic Disorder / genetics
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / genetics
  • Fragile X Syndrome / prevention & control*
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / genetics
  • Male
  • Mass Screening / methods
  • Sampling Studies
  • Sex Chromosome Aberrations / prevention & control*