The impact of genetic counselling on females in fragile X families.

  title={The impact of genetic counselling on females in fragile X families.},
  author={Greta Curtis and Nick Dennis and James N Macpherson},
  journal={Journal of medical genetics},
  volume={31 12},
We report a retrospective study over the period 1981-1992 of the reproductive histories of 27 women, from 21 families, who were known or possible fragile X carriers. Eighteen women had cytogenetic and DNA linkage studies to establish their carrier risk. They subsequently received definitive carrier status information following the cloning of the gene in 1991. The remaining nine women had cytogenetic and mutation studies only. For 11 of the women their carrier risk was modified over the 11 year… CONTINUE READING

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