Article
A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.
Human genetics - 1 Oct 1996
Milà M, Castellví-Bel S, Giné R, Vazquez C, Badenas C, Sánchez A, Estivill X
Abstract excerpt
Fragile X syndrome is the most common cause of inherited mental retardation. The incidence has been estimated to be 1 in 1250 males and 1 in 2000 females. Molecular studies have shown that 95% of fragile X syndrome cases are caused by the expansion of a CGG triplet in the FMR1 gene with hypermeth...
Topics
- Adult
- Atlantic Islands
- Chromosome Mapping
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Humans
- Intellectual Disability
- Male
- Methylation
- Mutation
- Nerve Tissue Proteins
- Pedigree
- RNA-Binding Proteins
- Reference Values
- Trinucleotide Repeats
- X Chromosome