A case of 21q-syndrome with half normal SOD-1 activity.
A male Japanese infant was found to have a chromosomal aberration of del(21)(qter leads to q22.1-2) and decreased superoxide dismutase (SOD) activity in erythrocytes and polymorphonuclear and mononuclear leukocytes. The cuprozinc enzyme (SOD-1) level was 40-50% of normal, while the cyanide-insensitive manganese enzyme (SOD-2) activity was within the normal range. Determination of SOD activity in blood cells is a valuable method of classification of the syndrome.
D002869:Chromosome Aberrations / Q000201:enzymology*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013482:Superoxide Dismutase / Q000097:blood / Q000235:genetics*; D013577:Syndrome
D013482:Superoxide Dismutase