Article
Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.
American journal of medical genetics - 9 Aug 1996
Kambouris M, Snow K, Thibodeau S, Bluhm D, Green M, Feldman G L
Abstract excerpt
Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had...
Topics
- Alleles
- DNA Methylation
- Diseases in Twins
- Family
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Male
- Mutation
- Nerve Tissue Proteins
- Pedigree
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Twins, Dizygotic