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Evidence for two active X chromosomes in a human XXY triploid

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A human XXY chromatin negative triploid culture has been found to have both the A and B isozymes of glucose-6-phosphate dehydrogenase, as well as an intermediately migrating AB (hybrid) band. This finding indicates that the cells in this culture each possess 2 active X chromosomes. Possible mechanisms producing the abnormalities seen in this disorder are presented and discussed.

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Research supported by NIH Grant No. GM 15253-08 and Fellowship No. 1-F03-GM 54 160-01.

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Weaver, D.D., Gartler, S.M., Boué, A. et al. Evidence for two active X chromosomes in a human XXY triploid. Hum Genet 28, 39–42 (1975).

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  • Internal Medicine
  • Metabolic Disease