Article
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.
American journal of medical genetics. Part A - 15 Feb 2003
Hundscheid R D L, Smits A P T, Thomas C M G, Kiemeney L A L M, Braat D D M
Abstract excerpt
Carriers of fragile X premutations were previously considered phenotypically normal but are now known to be at risk for premature ovarian failure (POF). This prompted us to investigate whether premutation carriers (PC) have an increased risk for other diseases. We approached 306 women out of 84 fra(X) families of whom 264 (86.3%) participated in this study. A medical history was taken of these women. Whenever...
Topics
- Adult
- Aged
- Family Health
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Heterozygote
- Humans
- Middle Aged
- Mutation
- Nerve Tissue Proteins
- Odds Ratio
- Primary Ovarian Insufficiency
- RNA-Binding Proteins
- Risk Factors