Article
Mental status of females with an FMR1 gene full mutation.
American journal of human genetics - 1 May 1996
de Vries B B, Wiegers A M, Smits A P, Mohkamsing S, Duivenvoorden H J, Fryns J P, Curfs L M, Halley D J, Oostra B A, van den Ouweland A M, Niermeijer M F
Abstract excerpt
The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the...
Topics
- Adult
- Aged
- DNA
- Female
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Male
- Mental Status Schedule
- Middle Aged
- Models, Genetic
- Mutation