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

Am J Med Genet. 1994 Jul 15;51(4):400-2. doi: 10.1002/ajmg.1320510419.

Abstract

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.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Spontaneous / etiology
  • Adult
  • Colorado
  • DNA Mutational Analysis
  • Denmark
  • Female
  • Fragile X Syndrome / complications*
  • Fragile X Syndrome / genetics
  • Heterozygote*
  • Humans
  • Menopause, Premature / genetics*
  • Menstruation Disturbances / etiology*
  • Menstruation Disturbances / genetics
  • Mutation
  • Ontario
  • Oogonia / physiology
  • Pregnancy
  • Repetitive Sequences, Nucleic Acid
  • Risk Assessment
  • South Carolina
  • Virginia