title: Ring chromosome 21 and SOD activity of blood cells.
abstract: A female infant was found to have an abnormal karyotype with mosaicism: 45,XX,-21/46,XX,r(21) (p11.2 q22.3). She showed a slightly decreased level of superoxide dismutase (SOD) activity in erythrocytes, polymorphonuclear and mononuclear leukocytes. The cuprozinc SOD (SOD-1) activity of leukocytes was 70-80% of normal level, while their manganese SOD (SOD-2) activity was within the normal range. The relationship between the chromosomal aberration and the SOD activity is discussed in relation to the gene dosage effect.
mesh_terms: D002675:Child, Preschool; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000648:ultrastructure*; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology*; D009030:Mosaicism; D013482:Superoxide Dismutase / Q000097:blood*
chemical_list: D013482:Superoxide Dismutase