We report a female patient with Seckel syndrome who developed acute my
eloid leukaemia at the age of 26 years. Analysis of bone marrow chromo
somes showed an abnormal clone with abnormalities involving multiple c
hromosomes, including monosomy 7, trisomy 8, trisomy 11, and loss of t
he long arm of chromosome 5. After treatment with chemotherapy, the pa
tient experienced severe toxicity with profound bone marrow aplasia an
d died of pneumonia two months later. We suggest that patients with Se
ckel syndrome may be at risk of developing myelodysplasia and acute my
eloid leukaemia. They may also have poor tolerance to cytotoxic therap
y.