Article
Genotype mosaicism in fragile X fetal tissues.
Human genetics - 1 Apr 1992
Wöhrle D, Hirst M C, Kennerknecht I, Davies K E, Steinbach P
Abstract excerpt
The fragile X syndrome is one of the most common familial causes of mental retardation. It is associated with the expression of a fragile site at Xq27.3, although not all individuals carrying the mutation are fragile-X-positive. Recently, the mutation causing this disease has been identified as the amplification of, or insertion into, a CGG repeat sequence at the fragile site. The mutated chromosome can be...
Topics
- Blotting, Southern
- Female
- Fetal Diseases
- Fetus
- Fragile X Syndrome
- Humans
- Male
- Methylation
- Mosaicism
- Mutation
- Polymorphism, Restriction Fragment Length
- Prenatal Diagnosis