The red cell glutathione reductase in trisomy of the chromosome 8.
About one and a half-fold increase of the red cell glutathione reductase (GSR) activity was detected in two children with trisomy of the chromosome 8. In the third child with clinical suspicion of this trisomy, but with normal karyotype, the GSR activity was normal. Evaluation of the red cell GSR activity is of diagnostic value in this syndrome.
D002648:Child; D002906:Chromosomes, Human, 6-12 and X; D004912:Erythrocytes / Q000201:enzymology*; D005980:Glutathione Reductase / Q000097:blood*; D006801:Humans; D007621:Karyotyping; D014314:Trisomy
D005980:Glutathione Reductase