Carrier Frequency for Fragile X Syndrome: 1 in 260 Women
Fragile X syndrome is the leading cause of inherited mental retardation, affecting approximately 1 in 4,000 males and 1 in 8,000 females.
The carrier frequency in women is approximately 1 in 260. Carrier females have a 50% chance of passing the fragile X mutation to their children.
Genzyme’s fragile X testing includes both PCR and Southern blot analysis to provide the most accurate results.
Indications for fragile X testing include:
- Individuals with undiagnosed mental retardation, developmental delay or autism
- Carrier testing for women with infertility problems associated with elevated follicle stimulating hormone (FSH) levels
- Premature ovarian insufficiency (POI) or unexplained early menopause
- Men and women with late onset intention tremor and cerebellar ataxia of unknown origin.
Learn more about fragile X testing from Genzyme.
