Hyperdiploid karyotype in a childhood MDS patient

We present a rare case of a paediatric myelodysplastic syndrome (MDS) with congenital anomalies (frontal bossing and premature closure of anterior fon tanelle). The case showed the clinical and biological features of a refract ory anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrate d a hyperdiploid karyotype, with several numerical abnormalities and uniden tified rearrangements. Fluorescence in situ hybridization (FISH) using chro mosome specific alpha -satellite and whole chromosome-specific painting pro bes verified the hyperdiploid karyotype, and confirmed the origin of the un known markers and rearrangements more reliably than would be possible using conventional cytogenetic techniques.