Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.
D000328:Adult; D002874:Chromosome Mapping; D002904:Chromosomes, Human, 21-22 and Y; D003878:Dermatoglyphics; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D013482:Superoxide Dismutase / Q000235:genetics*; D014178:Translocation, Genetic
D013482:Superoxide Dismutase