Article
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.
American journal of medical genetics - 15 Jul 1994
Hagerman R J, Hull C E, Safanda J F, Carpenter I, Staley L W, O'Connor R A, Seydel C, Mazzocco M M, Snow K, Thibodeau S N
Abstract excerpt
Fragile X (fra(X)) males with a standardized IQ score of 70 or higher represent a high functioning (HF) or nonretarded fra(X) male group. This group, which does not include nonpenetrant males, has received little research attention to date. Of 221 fra(X) males who had been evaluated through The C...
Topics
- Adolescent
- Adult
- Analysis of Variance
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Dosage
- Gene Expression
- Humans
- Infant
- Intelligence
- Male