Article
The fragile X premutation in carriers and its effect on mutation size in offspring.
American journal of human genetics - 1 May 1995
Fisch G S, Snow K, Thibodeau S N, Chalifaux M, Holden J J, Nelson D L, Howard-Peebles P N, Maddalena A
Abstract excerpt
The pattern of inheritance in the fragile X (fra(X)) mutation follows a multistage intergenerational process in which the premutation evolves into the full mutation and the characteristic phenotype of the fra(X) syndrome after passing through oogenesis or a postzygotic event. Findings from our mu...
Topics
- Female
- Fragile X Syndrome
- Gene Frequency
- Heterozygote
- Humans
- Male
- Models, Genetic
- Mutation
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid
- Risk Factors
- Sex Characteristics