Article
Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.
American journal of human genetics - 1 Apr 1990
Rocchi M, Archidiacono N, Rinaldi A, Filippi G, Bartolucci G, Fancello G S, Siniscalco M
Abstract excerpt
The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation has been investigated in a group of phase-known double heterozygotes for the FRA-X mutant and the G6PD Mediterranean variant. In these individuals, the number of somatic cells (fibroblasts or red cells) with an active FRA-X chromosome could be assessed...
Topics
- Dosage Compensation, Genetic
- Female
- Fragile X Syndrome
- Glucosephosphate Dehydrogenase
- Heterozygote
- Humans
- Intellectual Disability
- Mutation
- Phenotype
- Sex Chromosome Aberrations