A 2 years 4 months old boy with erythroleukemia (FAB-M6) and Down's sy
ndrome is described. Chromosome analysis of bone marrow leukemic blast
s revealed apart from the trisomy 21 a partial trisomy of the long arm
of chromosome 1:1q23 --> 1qter in all cells and trisomy 8 mosaicism.
To the best of our knowledge this is the first time that a partial tri
somy of chromosome 1 in association with erythroleukemia has been desc
ribed. Previous reports of other hematologic malignancies with aberrat
ions of chromosome 1 indicate that the breakpoint 1q23 is nonrandom an
d that trisomies of chromosome 1 plays a crucial role in the course of
development of hematologic malignancies. This could probably also be
true for erythroleukemias.