Hyperdiploid karyotype in a childhood MDS patient

Hasan Acar, Ümran Çaliskan, Murat Kaynak, M. Selman Yildirim, David A. Largaespada

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


We present a rare case of a paediatric myelodysplastic syndrome (MDS) with congenital anomalies (frontal bossing and premature closure of anterior fontanelle). The case showed the clinical and biological features of a refractory anaemia excess blasts (RAEB). Bone marrow (BM) cytogenetics demonstrated a hyperdiploid karyotype, with several numerical abnormalities and unidentified rearrangements. Fluorescence in situ hybridization (FISH) using chromosome specific α-satellite and whole chromosome-specific painting probes verified the hyperdiploid karyotype, and confirmed the origin of the unknown markers and rearrangements more reliably than would be possible using conventional cytogenetic techniques.

Original languageEnglish (US)
Pages (from-to)255-258
Number of pages4
JournalClinical and Laboratory Haematology
Issue number4
StatePublished - 2001


  • Hyperdiploid


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