Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females.

@article{Horn1981MenkesXD,
  title={Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females.},
  author={Nina Horn},
  journal={Prenatal diagnosis},
  year={1981},
  volume={1 2},
  pages={107-20}
}
  • Nina Horn
  • Published 1981 in Prenatal diagnosis
Menkes X-linked disease, a copper disturbance syndrome, is detectable in cell cultures. Prenatal findings in two at-risk foetuses suggested that prenatal diagnosis was also feasible. In this study, we report substantial evidence that therapeutic abortion can be limited to hemizygous males. Forty-two at-risk pregnancies from 21 European families and 1 Canadian family were monitored with 64Cu-uptake into cultured amniotic fluid cells. In 10 pregnancies with a male karyotype an affected foetus was… CONTINUE READING