A patient with familial bone marrow failure and an inversion of chromosome 8

J Pediatr Hematol Oncol. 2011 Dec;33(8):626-7. doi: 10.1097/MPH.0b013e31822f2fd4.

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Aplastic
  • Bone Marrow Diseases
  • Bone Marrow Failure Disorders
  • Child
  • Chromosome Inversion / genetics*
  • Chromosomes, Human, Pair 8 / genetics*
  • Female
  • Hemoglobinuria, Paroxysmal / genetics*
  • Hemoglobinuria, Paroxysmal / therapy
  • Humans
  • Watchful Waiting