Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation

Cancer Genet Cytogenet. 2002 Jan 1;132(1):71-3. doi: 10.1016/s0165-4608(01)00529-5.

Abstract

Here, we report a 72-year-old male patient with acute myeloid leukemia (AML) without maturation. Cytogenetic study of a bone marrow culture revealed the following karyotype: 47,XX,+21,+i(21)(q10)x2. Fluorescence in situ hybridization study with a locus specific probe for 21q22 verified a pentasomy of 21q as a sole clonal cytogenetic abnormality. To our knowledge, this is the first report of pentasomy 21q in AML without Down syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aneuploidy*
  • Antigens, CD / analysis
  • Bone Marrow / pathology
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 21 / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / genetics*
  • Male

Substances

  • Antigens, CD