Article
The fragile (X) syndrome: the mutation problem.
American journal of medical genetics - 1 Jan 2000
Jacobs P A, Sherman S, Turner G, Webb T
Abstract excerpt
In an attempt to understand the nature of the mutational event leading to the fra(X) syndrome, we have searched for sporadic cases in 3 populations: affected males, affected females, and non-affected transmitting females. In all 3 populations there was a dearth of isolated cases, and the reasons for this are discussed.
Topics
- Female
- Fragile X Syndrome
- Genetic Testing
- Heterozygote
- Humans
- Intellectual Disability
- Male
- Models, Genetic
- Mutation
- Pedigree
- Phenotype
- Selection, Genetic
- Sex Chromosome Aberrations