title: A patient with familial bone marrow failure and an inversion of chromosome 8.
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.
authors: Division of Hematology, Children's Hospital of Orange County, Orange, CA, USA. dbuchbinder@choc.org
authors: David Kyle
authors: DK
authors: Buchbinder
authors: Touran
authors: T
authors: Zadeh
authors: Diane
authors: D
authors: Nugent
mesh_terms: D000741:Anemia, Aplastic; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D002648:Child; D007446:Chromosome Inversion / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000235:genetics* / Q000628:therapy; D006801:Humans; D057832:Watchful Waiting