Article
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.
Human genetics - 1 Oct 1997
Milà M, Sànchez A, Badenas C, Brun C, Jiménez D, Villa M P, Castellví-Bel S, Estivill X
Abstract excerpt
Fragile X syndrome is the most common inherited form of familial mental retardation. It results from a (CGG)n trinucleotide expansion in the FMR1 gene leading to the typical Martin-Bell phenotype. Clinical features vary depending on age and sex. Expansion of a (CCG)n repeat in the FMR2 gene corre...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosome Fragile Sites
- Chromosome Fragility
- DNA Methylation
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Humans
- Male
- Mosaicism
- Mutation
- Nerve Tissue Proteins
- Nuclear Proteins
- Phenotype