Article
Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome.
Lancet (London, England) - 23 Oct 1993
Wang Q, Green E, Barnicoat A, Garrett D, Mullarkey M, Bobrow M, Mathew C G
Abstract excerpt
The molecular cloning of the gene that causes the fragile X syndrome, and the demonstration that the causative mutation is an expansion of an unstable trinucleotide repeat, suggests that cytogenetic testing could be replaced by a molecular test. We compared the two methods in 525 routine referrals. 12 cases were positive in both tests. 1 case that had a negative DNA test for the fragile site at Xq27.3 (FRAXA),...
Topics
- Alleles
- Child
- Child, Preschool
- Chromosome Fragile Sites
- Chromosome Fragility
- Cytogenetics
- DNA
- Female
- Fragile X Syndrome
- Humans
- Male
- Mutation