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Acquired inv(9): what is its significance?

Jaime L Betz1, Ahmed S Behairy, Pedro Rabionet

  • 1Division of Genetics, US Labs Inc., Irvine, CA, USA.

Cancer Genetics and Cytogenetics
|June 14, 2005
PubMed
Summary

Acquired pericentric inversion of chromosome 9 [inv(9)] was observed in two patients with hematologic disorders. This finding challenges the assumption that inv(9) is always inherited, suggesting potential de novo or epigenetic origins.

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Area of Science:

  • Cytogenetics
  • Human Genetics
  • Hematology

Background:

  • Pericentric inversion of chromosome 9 [inv(9)] is a common constitutional heteromorphism, typically considered familial.
  • No prior reports existed of de novo or acquired inv(9) in constitutional karyotypes.

Observation:

  • Two cases of acquired inv(9) chromosomes were identified in patients with hematologic conditions: acute myeloid leukemia and severe anemia.
  • The acquired nature of the inversion was confirmed through constitutional karyotyping and molecular analysis.

Findings:

  • The acquired inv(9) cytogenetically mimics the common constitutional heteromorphism.
  • Potential mechanisms include de novo inversion or neocentromere activation in chromosome 9q due to disease-associated epigenetic events.

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Implications:

  • This study presents evidence that inv(9) can be acquired, not solely inherited.
  • The clinical significance of acquired inv(9) remains undetermined, necessitating further case reports and research into underlying mechanisms.