[Prevention of fragile X syndrome by prenatal genetic diagnosis: advantages and controversial aspects].

Abstract excerpt

INTRODUCTION: Fragile X syndrome is the most common cause of hereditary mental retardation. Since the molecular mechanism causing it (anomalous expansion of the CGG triplet in the FMR1 gene and hypermethylation of its CpG island) was identified exactly ten years ago, it has been possible to give families in whom the syndrome is transmitted completely reliable prenatal genetic diagnosis of this. OBJECTIVE: To...

Topics

• Female
• Fragile X Syndrome
• Genetic Testing
• Heterozygote
• Humans
• Intellectual Disability
• Male
• Molecular Diagnostic Techniques
• Mutation
• Pedigree
• Pregnancy
• Prenatal Diagnosis
• Retrospective Studies
• Trinucleotide Repeats