Abstract
During donor evaluation for allogeneic bone marrow transplantation (BMT) of a 28-month-old child with juvenile chronic myelogeneous leukemia (JCML) with 46,XY,−7,+mar karyotype, the potential donor twin brother was found to be thrombocytopenic. Subsequent genotype analysis determined monozygosity with 98% probability. Bone marrow analysis of the twin brother revealed the same 46,XY,−7,+mar karyotype and a diagnosis of JCML was made. Metaphase FISH studies documented that mar chromosome in both twins contains the pericentromeric region of chromosome 7 and thus both twins had a partial monosomy of chromosome 7. A possible embryonic origin of del(7) is proposed.
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Najfeld, V., Vlachos, A., Parker, R. et al. Evidence for the embryonic origin of partial chromosome 7 deletion in monozygotic twins with juvenile chronic myelogenous leukemia. Leukemia 11, 306–310 (1997). https://doi.org/10.1038/sj.leu.2400565
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DOI: https://doi.org/10.1038/sj.leu.2400565