[Clinical and genetic consequences of ring chromosome, a structural genome mutation].

Abstract excerpt

Ring chromosome is a peculiar genetic anomaly which may cause phenotypic abnormalities even without a loss of genetic material. The ring formation of chromosome ends induces difficulties in the sister chromatid separation at cell division, resulting in increased cell death rate through the generation of secondary aneuploid cells. Based on the in vitro analyses of own cases and a review of more than 200 case...

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