title: A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess.
abstract: A 5-year-old boy with Down's syndrome of mild phenotype is described. Chromosome studies revealed that the karyotype of the proband was 46,XY,rec(21),dup q,inv(21) (p11.2q22.1)mat, and the segment 21q22.1----21qter was trisomic. The erythrocyte superoxide dismutase-1 (SOD-1) was found to be normal, and so we conclude that SOD-1 excess is not necessarily observed in patients with Down's syndrome caused by partial 21 trisomy. It is suggested that the gene for SOD-1 is located on the more proximal segment of the sub-band 21q22.1.
mesh_terms: D002675:Child, Preschool; D004314:Down Syndrome / Q000097:blood / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007621:Karyotyping; D008297:Male; D011995:Recombination, Genetic; D013482:Superoxide Dismutase / Q000097:blood* / Q000235:genetics
chemical_list: D013482:Superoxide Dismutase