Article
Affected sibs with fragile X syndrome exhibit an age-dependent decrease in the size of the fragile X full mutation.
Clinical genetics - 1 Mar 1993
Mornet E, Jokic M, Bogyo A, Tejada I, Deluchat C, Boué J, Boué A
Abstract excerpt
The sizes of the fragile X mutation in 33 sib pairs affected with fragile X syndrome were determined by Southern blot analysis. An age-dependent decrease in the size of the mutation was found, suggesting positive selection of blood cells carrying small mutations during life or maternal imprinting.
Topics
- Adolescent
- Adult
- Age Factors
- Base Composition
- Blotting, Southern
- Child
- DNA
- Electrophoresis, Agar Gel
- Female
- Fragile X Syndrome
- Humans
- Male
- Maternal Age