Pentasomy 21 in leukemia complicating Diamond-Blackfan anemia

Pier Giorgio Mori, Riccardo Haupt, Giusy Fugazza, Mario Sessarego, Anna Corcione, Paolo Strigini, Raffaele Sansone

Research output: Contribution to journalArticlepeer-review


We present the cytogenetic pattern of a leukemic infant with Diamond-Blackfan anemia (DBA). The karyotype was characterized by clonal evolution involving consecutive gains of chromosome 21 up to pentasomy. No chromosomal changes were present in normal lymphocytes. Such a karyotype evolution has been described in some cases of acute leukemia associated with Down Syndrome, but rarely in non-Down cases.

Original languageEnglish
Pages (from-to)70-72
Number of pages3
JournalCancer Genetics and Cytogenetics
Issue number1
Publication statusPublished - Oct 1 1992

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology


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