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- W2095983146 abstract "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 predicted on the basis of the copper studies. The pregnancies were terminated and the diagnosis was in each case confirmed by a markedly increased placenta copper content. Fourteen male foetuses were predicted to be unaffected and none of them has developed signs of Menkes disease after birth. In 6 of these cases the diagnosis was checked in the newborn boy by placenta copper measurements, and they all had copper concentrations within normal limits. Eighteen pregnancies with a female karyotype were also studied, 9 females could be identified as carriers on the basis of the tissue culture studies or raised placenta copper values." @default.
- W2095983146 created "2016-06-24" @default.
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- W2095983146 date "1981-04-01" @default.
- W2095983146 modified "2023-10-05" @default.
- W2095983146 title "Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females" @default.
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- W2095983146 doi "https://doi.org/10.1002/pd.1970010205" @default.
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