Article
DNA-based genetic testing in fifty fragile X families.
American journal of medical genetics - 1 Jan 2000
Murphy P D, Watson M S, Shapiro L R, Wilmot P L, Breg W R
Abstract excerpt
During the past 4 years (1985-1989), we have analyzed 171 cases in 50 fragile X [fra(X)] families by DNA linkage methods. Most (140 cases; 81%) were for carrier detection, both female (98 cases; 57%) and male (41 cases; 24%). Women who were obligate carriers of the fra(X) mutation accounted for an additional 6 "prior-to-pregnancy" cases. Four pregnancies have subsequently occurred with 3 having been successfully...
Topics
- Alleles
- DNA
- DNA Probes
- Evaluation Studies as Topic
- Female
- Fragile X Syndrome
- Gene Frequency
- Genetic Carrier Screening
- Genetic Markers
- Genetic Testing
- Humans
- Male