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Updated: May 28, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
A patient with familial bone marrow failure and an inversion of chromosome 8
David Kyle Buchbinder1, Touran Zadeh, Diane Nugent
1Division of Hematology, Children's Hospital of Orange County, Orange, CA, USA. dbuchbinder@choc.org
Abstract:
Familial bone marrow failure has been associated with a variety of chromosomal aberrations. Chromosome 8 abnormalities have been described in association with neoplastic and hematologic disorders; however, to our knowledge, inversion of the long arm of chromosome 8 has not been described in the context of familial bone marrow failure. We describe a 9-year-old female with familial bone marrow failure and an inversion of chromosome 8 [inv (8) (q22, q24.3)]. Given the importance of considering the genetic determinants of familial bone marrow failure, the potential role of chromosome 8 abnormalities in the development of marrow failure is discussed.
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