Article
[Genetics of Fragile X syndrome and its prevention].
Journal de gynecologie, obstetrique et biologie de la reproduction - 1 Jan 1997
Boué J, Simon-Bouy B
Abstract excerpt
The fragile X syndrome is the most common inherited form of mental retardation. Its prevalence is estimated to be one in 1000-4000 males and one in 2000-6000 females, depending of the region. A large canadian population study in Quebec has shown a frequency of 1/260 carrier women. The fragile X syndrome was the first disease shown to be associated with "dynamic mutations", caused by an amplification of an...
Topics
- Female
- Fragile X Syndrome
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Male
- Mutation
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- Prevalence