Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome

@article{Wang1993CytogeneticVD,
  title={Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome},
  author={Q. Wang and E. Green and A. Barnicoat and D. Garrett and M. Mullarkey and M. Bobrow and C. Mathew},
  journal={The Lancet},
  year={1993},
  volume={342},
  pages={1025-1026}
}
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), but a positive cytogenetic result, was shown to be caused by a mutation at the FRAXE… Expand
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