Molecular/clinical correlations in females with fragile X

William E. Sobesky, Annette K. Taylor, Bruce F. Pennington, Loisa Bennetto, Deborah Porter, Jeannette Riddle, Randi J Hagerman

Research output: Contribution to journalArticlepeer-review

97 Scopus citations


Females who are affected by fragile X syndrome (FXS) can have significant physical, neuropsychological and emotional involvement. This study was designed to explore the relationships between these three domains and to learn how the degree of involvement in each of these phenotypic areas relates to molecular parameters including CGG repeat length and activation ratio (the proportion of normal FMR1 alleles on the active X chromosome). Three groups of females were studied: 35 women who grew up in a fragile X family but do not carry an FMR1 mutation, 92 women with a premutation, and 29 women with a full mutation. Correlations between neurocognitive, physical and emotional traits were calculated for each of the three groups. Within the full mutation group significant correlations were seen between schizotypal traits and full scale IQ. The Lie scale was significantly correlated with the physical findings index. The activation ratio correlated significantly with the measure of executive function (r = .50, P = .01). There was a trend toward correlations of activation ratio with the physical index score, outer ear prominence and IQ. CGG repeat number significantly correlated only with the physical index (r = .44, P = .01). Thus, activation ratio may be the more pertinent molecular parameter in full mutation women in determining the degree of cognitive and physical phenotypic involvement.

Original languageEnglish (US)
Pages (from-to)340-345
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - Aug 9 1996
Externally publishedYes


  • CGG repeats
  • fragile X females
  • neurocognitive deficits
  • physical findings
  • schizotypy
  • X-inactivation ratio

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology


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