Article
The FMR1 premutation and reproduction.
Fertility and sterility - 1 Mar 2007
Wittenberger Michael D, Hagerman Randi J, Sherman Stephanie L, McConkie-Rosell Allyn, Welt Corrine K, Rebar Robert W, Corrigan Emily C, Simpson Joe Leigh, Nelson Lawrence M
Abstract excerpt
OBJECTIVE: To update clinicians on the reproductive implications of premutations in FMR1 (fragile X mental retardation 1). Fragile X syndrome, a cause of mental retardation and autism, is due to a full mutation (>200 CGG repeats). Initially, individuals who carried the premutation (defined as more than 55 but less than 200 CGG repeats) were not considered at risk for any clinical disorders. It is now recognized...
Topics
- Adolescent
- Adult
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Counseling
- Genetic Testing
- Humans
- Male
- Mutation
- Pregnancy