Summary
We have reviewed 215 published cases of leukaemia and transient leukaemia in Down syndrome. There is an over-representation of mosaic trisomy 21, possibly the result, at least in part, of a survival effect. The most intriguing observation is a bimodal distribution of maternal age, produced largely because cases with true leukaemia have a significantly higher maternal age than cases with transient leukaemia (33.5 versus 29.5 years). In conjunction with evidence that meiosis I non-disjunction is infrequent in transient leukaemia, this suggests different mechanisms for the etiology of leukaemia and transient leukaemia, and favours a locus predisposing to transient leukaemia proximal to the centromere on the long arm of chromosome 21.
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Iselius, L., Jacobs, P. & Morton, N. Leukaemia and transient leukaemia in Down syndrome. Hum Genet 85, 477–485 (1990). https://doi.org/10.1007/BF00194220
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DOI: https://doi.org/10.1007/BF00194220