Article
Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
American journal of human genetics - 1 Oct 1993
McConkie-Rosell A, Lachiewicz A M, Spiridigliozzi G A, Tarleton J, Schoenwald S, Phelan M C, Goonewardena P, Ding X, Brown W T
Abstract excerpt
DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. Fragile X chromosome studies, detailed phy...
Topics
- Adult
- Chromosome Mapping
- DNA
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Variation
- Humans
- Male
- Methylation
- Middle Aged
- Nerve Tissue Proteins
- Pedigree
- Phenotype
- Psychological Tests