How do chromosomal abnormalities found in myelodysplastic syndrome (MDS) differ from aplastic anemia?

Updated: Jan 29, 2021
  • Author: Sameer Bakhshi, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Chromosomal rearrangements are considered diagnostic of MDS, with trisomies of 8 and 21 and deletions of 5, 7, and 20 being the most common. However, the conventional karyotype technique reveals abnormalities in only about 50% of patients with MDS. Additionally, fluorescence in situ hybridization (FISH) may be used to visualize chromosomal abnormalities in interphase cells. Note that in hypoplastic marrows, obtaining sufficient sample for karyotyping is often difficult.

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