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Menkes X‐linked disease: Prenatal diagnosis of hemizygous males and heterozygous females
Author(s) -
Horn Nina
Publication year - 1981
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970010205
Subject(s) - menkes disease , prenatal diagnosis , fetus , obstetrics , pregnancy , amniotic fluid , abortion , placenta , karyotype , medicine , gynecology , physiology , biology , copper , genetics , copper metabolism , chromosome , chemistry , organic chemistry , gene
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 64 Cu‐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.