Article
Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.
American journal of medical genetics - 23 Jan 1998
Russo S, Selicorni A, Bedeschi M F, Natacci F, Viziello P, Fortuna R, Pagani G, Dalprà L, Larizza L
Abstract excerpt
The FRAXE fragile site, 600 Kb distal to the more common FRAXA, has been reported to be expressed in subjects with mild nonsyndromal mental retardation. Amplification of more than 200 GCC repeats associated with methylation of the adjacent CpG island at Xq28 is responsible for FRAXE fragility. We...
Topics
- Adolescent
- Blotting, Southern
- Child
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Male
- Nerve Tissue Proteins
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- RNA-Binding Proteins
- Restriction Mapping