Molecular and clinical correlations in fragile X syndrome

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13 Scopus citations


Since the advent of DNA testing after 1991, variations in molecular patterns, such as the CGG expansion length, mosaicism, partial methylation, and X‐inactivation, have been correlated with the degree of phenotypic involvement in fragile X syndrome. Although some reports conflict it appears that a low CGG repeat number within the full mutation range or lack of methylation, whether almost complete or partial, is associated with only mild involvement in males. A subgroup of individuals with the premutation may also demonstrate mild problems associated with fragile X syndrome. This article reviews preliminary studies of FMRP expression and discusses a hypothesized correlation between FMRP expression and phenotypic involvement. Molecular and clinical correlations are advancing our understanding of the mild range of phenotypic involvement in fragile X syndrome, which involves learing disabilities and emotional difficulties, but not mental retardation. © 1995 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)276-280
Number of pages5
JournalMental Retardation and Developmental Disabilities Research Reviews
Issue number4
StatePublished - 1995
Externally publishedYes


  • DNA studies
  • fragile X
  • full mutation
  • learing disabilities
  • methylation
  • premutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuropsychology and Physiological Psychology
  • Genetics(clinical)


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