title: Trisomy 1q in a patient with severe aplastic anemia.
abstract: Aplastic anemia is a rare, serious disease characterized by hypocellular bone marrow and pancytopenia in the peripheral blood. Most cases are acquired, idiopathic, and without gross cytogenetic abnormalities. A few chromosome abnormalities have recurred among a small subset of patients, most commonly trisomy 8 and monosomy 7. Some of these chromosome abnormalities have prognostic and therapeutic significance, although for most the clinical relevance is not known. We present the case of a 40-year-old man with idiopathic severe aplastic anemia in bone marrow cells with trisomy of the whole long arm of chromosome 1 due to an unbalanced translocation between chromosomes 1 and 15 at breakpoints of q10 and 15q10. This clonal abnormality (which, to our knowledge, has not been previously reported in a patient with aplastic anemia) suggests that genes on 1q may be involved in marrow aplasia.
authors.affiliation: Department of Medicine, University of Oklahoma Health Sciences Center, 941 Stanton L. Young Blvd, Oklahoma City, OK 73104, USA.
authors.forename: Prodromos
authors.initials: P
authors.lastname: Angelidis
authors.forename: Kiarash
authors.initials: K
authors.lastname: Kojouri
authors.forename: Jiyun
authors.initials: J
authors.lastname: Lee
authors.forename: William
authors.initials: W
authors.lastname: Kern
authors.forename: John J
authors.initials: JJ
authors.lastname: Mulvihill
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D007621:Karyotyping; D014314:Trisomy