Article
Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing.
American journal of medical genetics - 15 Jul 1994
Fisch G S, Nelson D L, Snow K, Thibodeau S N, Chalifoux M, Holden J J
Abstract excerpt
Until recently, fragile X [fra(X)] syndrome was diagnosed by cytogenetic techniques and/or linkage analysis. Investigation of the mutation at the molecular level has shown that amplification of a polymorphic trinucleotide repeat (CGG) is diagnostic of this syndrome. Fu et al. [1991] observed that...
Topics
- Bayes Theorem
- DNA Mutational Analysis
- False Negative Reactions
- False Positive Reactions
- Female
- Fragile X Syndrome
- Gene Dosage
- Gene Frequency
- Genetic Carrier Screening
- Genetic Testing
- Humans
- Male
- Minnesota
- Mutation
- Ontario
- Predictive Value of Tests
- Repetitive Sequences, Nucleic Acid
- Sensitivity and Specificity