Monosomy 21 in hematologic diseases

Daniel L. Van Dyke, Anne Wiktor

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Monosomy 21 mosaicism as a sole cytogenetic abnormality is very uncommon, with 47 cases described in the literature. We identified five cases of low-level monosomy 21 mosaicism since 1998, none of which were confirmed by fluorescence in situ hybridization (FISH) analysis or follow-up cytogenetic studies. These five cases, and many of the previously reported cases, probably represent the random appearance of several monosomy 21 cells as artifacts of cell culture or microscope slide preparation. The most convincing reported cases of monosomy 21 mosaicism suggest a rare association of monosomy 21 with acute myelocytic leukemia and chronic lymphocytic leukemia. Future cases suggestive of monosomy 21 mosaicism should be confirmed by analysis of additional metaphase cells and by FISH analysis of interphase cells.

Original languageEnglish (US)
Pages (from-to)137-141
Number of pages5
JournalCancer Genetics and Cytogenetics
Issue number2
StatePublished - Apr 15 2003

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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