Obstetrical and gynecological complications in fragile X carriers: A multicenter study

C. E. Schwartz, J. Dean, P. N. Howard-Peebles, M. Bugge, M. Mikkelsen, N. Tommerup, C. Hull, Randi J Hagerman, J. J A Holden, R. E. Stevenson

Research output: Contribution to journalArticlepeer-review

164 Scopus citations


We have conducted a multicenter obstetrical and gynecological survey of women in fragile X families. Included in the study were 131 gene carriers (39 with a full mutation and 92 with a premutation) and 109 noncarriers. Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications. As a group they also experienced cessation of menses prior to age 40 years at a significantly higher rate. The data appear to indicate that the FMR1 gene may play a role in the development and proliferation of oogonia.

Original languageEnglish (US)
Pages (from-to)400-402
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number4
StatePublished - 1994
Externally publishedYes


  • FMR1 gene
  • fragile X carriers
  • irregular menses
  • oogonia

ASJC Scopus subject areas

  • Genetics(clinical)


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