A case of r(21) with stigmata of atypical Down syndrome.
A case of r(21) with stigmata of atypical Down syndrome is presented. Karyotype of the proposita was determined as 45,XX,-21/46,XX,-21,+r(21)/47,XX,-21,+r(21),+(21). Most ring chromosomes showed double-sized ring chromosomes, which were trisomic for 21p11-21q22.3 and monosomic for 21q22.3-qter. SOD-1 activity revealed only slight elevation. The mechanism of ring formation is discussed.
D002869:Chromosome Aberrations; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D003878:Dermatoglyphics; D004314:Down Syndrome / Q000235:genetics*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D013482:Superoxide Dismutase / Q000097:blood / Q000235:genetics
D013482:Superoxide Dismutase