Article
[Fragile X syndrome confirmed by molecular analysis: a case-control study with pre and post-puberal patients].
Arquivos de neuro-psiquiatria - 1 Mar 2001
Boy R, Correia P S, Llerena J C, Machado-Ferreira Md, Pimentel M M
Abstract excerpt
The fragile X syndrome (FRAXA) is the most common cause of inherited mental retardation. However, it has been frequently underdiagnosed in pediatric population. The characterization of the most significant pre and post-puberal clinical features observed among patients that are positive for the FMR-1 mutation, is useful as a screening tool for ordering the DNA test. Therefore, a screening program for FRAXA has...
Topics
- Adolescent
- Adult
- Case-Control Studies
- Child
- Child, Preschool
- Female
- Fragile X Syndrome
- Humans
- Intellectual Disability
- Male
- Mutation
- Pedigree