Article
The fragile X syndrome.
Journal of medical genetics - 1 Jul 1998
de Vries B B, Halley D J, Oostra B A, Niermeijer M F
Abstract excerpt
The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) gene, the cytogenetic marker (a fragile site at...
Topics
- Chromosome Fragile Sites
- Chromosome Fragility
- DNA Mutational Analysis
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Humans
- Intellectual Disability
- Male
- Minisatellite Repeats
- Nerve Tissue Proteins
- Phenotype
- RNA-Binding Proteins
- X Chromosome