Abstract
Down syndrome (DS) is associated with an increased risk of developing hematological malignancies, but the basis for this predisposition is so far unknown. Using fluorescence in situ hybridization with a panel of locus-specific probes on normal and leukemic metaphases, we have found long-arm interstitial deletions of one of the chromosome 21s in the leukemic cells from five patients with DS and leukemia. This finding provides strong evidence for a gene or genes present on chromosome 21 having an important function in the development of leukemia in individuals with Down syndrome.
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Kempski, H., Chessells, J. & Reeves, B. Deletions of chromosome 21 restricted to the leukemic cells of children with Down syndrome and leukemia. Leukemia 11, 1973–1977 (1997). https://doi.org/10.1038/sj.leu.2400826
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DOI: https://doi.org/10.1038/sj.leu.2400826