Frequency, hematopathology, and detection of a new isodicentric variant of deletion 20q

Stephanie A. Smoley, Stephanie R. Fink, Sarah F. Paternoster, Kimberly J. Stockero, Lai P. Nguyen, Phuong L. Nguyen, Curtis A. Hanson, Gordon W. Dewald

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


The ider(20)(p11.21)del(20)(q11q13) anomaly was recognized only recently. Thus, its frequency and clinical significance has not been extensively studied. Due to small size and ambiguous G-band pattern, ider(20q) is usually missed in cytogenetic studies. Furthermore, the commercial FISH probe D20S108 does not distinguish among del(20q), ider(20q), and monosomy 20. Thus, we determined the frequency and hematopathology of patients with ider(20q), and the best cytogenetic methods to detect chromosome 20 anomalies. To do this, we performed FISH on interphase and metaphase cells for 12 patients with -20,+mar and 12 patients with only del(20q) in their karyotype. The marker chromosome in patients with -20,+mar proved to be ider(20q). FISH with D20S108 and 20qter distinguished ider(20q) from del(20q) and monosomy 20. Review of blood and bone marrow slides for nine patients with ider(20q) showed that one had acute myeloid leukemia and eight had myelodysplastic syndromes. Patients with ider(20q) had a more consistent presentation of multilineage dysplasia with additional involvement of the granulocytic series than patients with del(20q). This study shows ider(20q) is common in clinical practice-1/10th the incidence of del(20q)-and is strongly associated with myelodysplasia and acute myeloid leukemia.

Original languageEnglish (US)
Pages (from-to)144-149
Number of pages6
JournalCancer Genetics and Cytogenetics
Issue number2
StatePublished - Mar 1 2007

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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