A t(21q21q) Ring Chromosome

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Abstract
A mosaic 46, XY,–G,+ t(GqGq)/46, XY, rG was found in a boy with Down’s syndrome. The G- and Q-banding techniques allowed to identify the abnormal chromosomes: 46, XY,–21,+t(21q21q)/46, XY,–21,+r[t(21q21q)]. Since the boy only had symptoms of Down’s syndrome and none of the ‘antimongolism’ or 2 deletion syndrome, it was concluded that the 21 ring chromosome was derived secondaril from the t(21q21q) centric fusion or 21q isochromosome.

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