title: Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.
abstract: The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for band q21. His phenotype is characterized by moderate mental retardation, a long narrow face, high and arched palate, cardiac murmur, undescended testes, and long hyperflexible extremities. The normal SOD-1 activity supports localization of this enzyme to 21q22.1.
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D005796:Genes; D006801:Humans; D008297:Male; D010641:Phenotype; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase