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A case of 21q-syndrome with half normal SOD-1 activity |
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| Authors: | K Yoshimitsu S Hatano Y Kobayashi Y Takeoka M Hayashidani K Ueda K Nomura K Ohama T Usui |
| Institution: | 1. Department of Pediatrics, Hiroshima University School of Medicine, Kasumi 1-2-3, Minami-ku, 734, Hiroshima, Japan 2. Division of Pediatrics, Hiroshima Red Cross Hospital, Kasumi 1-2-3, Minami-ku, 734, Hiroshima, Japan 3. Division of Neonatology, Hiroshima City Hospital, Kasumi 1-2-3, Minami-ku, 734, Hiroshima, Japan 4. Department of Obstetrics and Gynecology, Hiroshima University School of Medicine, Kasumi 1-2-3, Minami-ku, 734, Hiroshima, Japan |
| Abstract: | 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. |
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