[Molecular biology of fragile X syndrome: recent data and diagnostic applications]

Fragile X syndrome is the most common cause of inherited mental retardation. Since the identification of the mutation, a Cytosine-Guanine-Guanine repeat in the Fragile X Mental Retardation (FMR1) gene, the genetic counselling and the diagnosis of the disease have been dramatically improved. The nature of the mutation and its size must be integrated in the calculation of the risk of transmission of mental retardation and in the genetic counselling in the family. Out of 245 patients affected with mental retardation referred to our laboratory, we found 37 (15%) fragile X patients, allowing to screen for the mutation in the family and to propose prenatal diagnosis in carrier females.