Article
Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations.
Human genetics - 1 Apr 1991
Archidiacono N, Lerone M, Rocchi M, Anvret M, Ozcelik T, Francke U, Romeo G
Abstract excerpt
The hypothesis of germinal mosaicism in the unaffected mother of two half-sisters affected with Rett syndrome is postulated to explain the unusual recurrence of this genetic disorder affecting only females (1/10,000); it might be caused by new X-linked mutations with lethality in male fetuses. Th...
Topics
- Cell Line
- Chromosome Mapping
- Female
- Genetic Linkage
- Humans
- Male
- Mosaicism
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- Rett Syndrome
- X Chromosome