Unbalanced translocation (1;7) in childhood myelodysplasia

We have identified an unusual pediatric patient among twelve patients with myelodysplasia and an unbalanced translocation involving chromosomes 1 and 7: -7, +der(1)t(1;7)(p11;p11). This 16-year-old male patient developed myelodysplasia and evolving acute leukemia, which were preceded by a 7-year history of marrow hypoplasia. The remaining patients were adults with clinical and hematologic findings similar to other reported cases with this chromosomal abnormality. The late appearance of this unbalanced clonal abnormality in this patient with marrow hypoplasia documents the importance of close cytogenetic follow-up of all patients with suspected bone marrow injury.