Summary
A male Japanese infant was found to have a chromosomal aberration of del(21)(qter→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 managanese 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.
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Yoshimitsu, K., Hatano, S., Kobayashi, Y. et al. A case of 21q-syndrome with half normal SOD-1 activity. Hum Genet 64, 200–202 (1983). https://doi.org/10.1007/BF00327128
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DOI: https://doi.org/10.1007/BF00327128