21 ring chromosome in a girl with stigmata of Down's and G deletion I syndromes.
An 11-year-old girl with severe psychomotor retardation and other congenital anomalies characteristic of Down's and G deletion I syndromes, was confirmed to be a chromosome 21 ring carrier by R- and G-banding techniques. The dynamics of the ring evolution resulting in a population of complex unstable rings, as in our index case, and the effects of the consequent ring mosaicism are briefly discussed.
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D013482:Superoxide Dismutase / Q000097:blood; D013577:Syndrome
D013482:Superoxide Dismutase