title: Menkes X-linked disease: prenatal diagnosis of hemizygous males and heterozygous females.
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.
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D002478:Cells, Cultured; D003300:Copper / Q000378:metabolism; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012737:Sex Factors; D014960:X Chromosome
chemical_list: D003300:Copper