Cytogenetic and molecular studies of Down syndrome individuals with transient leukemia
- Case Western Reserve Univ., Cleveland, OH (United States)
- Univ. of Toronto, Ontario (Canada); and others
There is an increased risk of leukemia in Down syndrome (DS) patients with estimates ranging from 14 to 30 times the incidence rate observed for normal children. Furthermore, one subtype of leukemia, called transient myeloproliferative disorder, or transient leukemia (TL), occurs almost exclusively in DS infants. The basis of the association between DS and leukemia is unknown but we and others have hypothesized that it may be attributable to the mechanism of origin of the extra chromosome. Therefore, we have initiated a cytogenetic and molecular study of nondisjunction in leukemic DS individuals. To date, we have obtained blood and/or tissue samples from 54 individuals, consisting of 16 cases with TL and 6 with acute megakaryoblastic leukemia (postulated to be related to TL), and 32 cases of other forms of leukemia (15 ALL, 10 AML, 7 others). Our preliminary data suggest significant differences between DS children with TL and those with other types of leukemia or DS individuals with no history of leukemia. For example, the TL cases have a highly significant increase in the frequency of {open_quotes}atypical{close_quotes} constitutional karyotypes (i.e. mosaic trisomies, rings, isochromosomes) and are almost always male. Initial gene mapping studies of these cases aimed at identifying loci important in the genesis of TL will be presented and compared to similar data from DS individuals with other forms of leukemia and those without leukemia.
- OSTI ID:
- 133575
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-0303
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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