[Importance of molecular diagnosis in the detection of healthy male transmitters of the fragile X syndrome].

Abstract excerpt

The fragile X syndrome is attracting much interest because it is now recognized as the most common genetic cause of mental retardation after Down's syndrome. No effective treatment is yet available and the underlying biochemical defect is not understood. Genetic counselling is often difficult because, although it primarily affects males, one third of carrier females are also retarded. In addition, there is an...

Topics

• Female
• Fragile X Syndrome
• Humans
• Intellectual Disability
• Male
• Molecular Biology
• Phenotype
• Sex Factors
• Spain