Article
The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.
Genetic testing - 1 Jan 2000
Geva E, Yaron Y, Shomrat R, Ben-Yehuda A, Zabari S, Peretz H, Naiman T, Yeger H, Orr-Urtreger A
Abstract excerpt
The Fragile X syndrome is the most common cause of inherited mental retardation. For a female premutation carrier, the risk of having a child with a full mutation is positively correlated with the size of the premutation. The current study was performed to evaluate the risk of premutation expansion in the offspring of average-risk carriers detected by general prenatal screening. Over a 4-year period, 9,660 women...
Topics
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Mutation
- Nerve Tissue Proteins
- Pregnancy
- Prenatal Diagnosis