Carrier diagnosis of the fragile X syndrome--a challenge in antenatal clinics.

Abstract excerpt

OBJECTIVE: The fragile X syndrome, a common cause of mental retardation, is poorly recognized even in families at risk. The aims of our study were to evaluate the possibility of finding previously unidentified carriers of the genetic defect in fragile X families, to use this information in antenatal diagnosis, and to study the attitudes of these families to genetic screening. STUDY DESIGN: We identified 59...

Topics

• DNA Mutational Analysis
• Female
• Fetal Diseases
• Fragile X Syndrome
• Genetic Carrier Screening
• Genetic Testing
• Humans
• Male
• Mutation
• Pregnancy
• Prenatal Diagnosis