Article
High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate.
American journal of medical genetics - 1 Jan 2000
Smits A, Smeets D, Hamel B, Dreesen J, van Oost B
Abstract excerpt
The overall prevalence of the fragile X [fra(X)] mutation, as determined by population studies, is approximately 1 in 850 [Gustavson et al., 1986; Webb et al., 1986]. This prevalence suggests a very high mutation rate which, in turn, suggests that many patients have to represent sporadic cases. I...
Topics
- Female
- Fragile X Syndrome
- Gene Amplification
- Genetics, Population
- Heterozygote
- Humans
- Male
- Models, Genetic
- Mutation
- Pedigree
- Repetitive Sequences, Nucleic Acid