Article
The fragile X syndrome: implications of molecular genetics for the clinical syndrome.
European journal of clinical investigation - 1 Jan 1994
Rousseau F
Abstract excerpt
The fragile X syndrome of mental retardation is one of the most common genetic diseases. Characterization of the mutations involved has greatly improved our knowledge of the transmission of fragile X syndrome and new DNA-based diagnostics tools significantly outperform cytogenetic testing both for establishing the diagnosis and for determining carrier status. Fragile X mutations consist of an expansion of a CGG...
Topics
- Child
- DNA Mutational Analysis
- Female
- Fragile X Syndrome
- Genetic Carrier Screening
- Genotype
- Humans
- Male
- Mass Screening
- Molecular Biology
- Oligodeoxyribonucleotides
- Pedigree