title: Duplication 15q in a patient with t(8;21) acute myeloblastic leukemia (M2).
abstract: We present unique chromosomal abnormalities found in a patient with acute myeloblastic leukemia (AML) of French-American-British subtype M2. The patient was referred for an evaluation of chromosomal anomaly associated with AML. She was found to have an abnormal karyotype 46,XX,t(8;21)(q22;q22), and a questionable dup(15)(q15q22) in the majority of cells analyzed. Two cells had the same chromosomal anomalies plus a duplicated derivative chromosome 21 [der(21)t(8;21)(q22;q22)]. These cytogenetic findings were confirmed by fluorescence in situ hybridization utilizing the appropriate DNA probes. To our knowledge, this is the first case report of a combination of the translocation between chromosomes 8 and 21, a duplication of chromosome 15 [dup(15)(q15q22), and a duplicated derivative chromosome 21 [der(21)t(8;21)(q22;q22)].
authors.affiliation: Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors.forename: Lijun
authors.initials: L
authors.lastname: Zhang
authors.forename: John J
authors.initials: JJ
authors.lastname: Mulvihill
authors.forename: Gary T
authors.initials: GT
authors.lastname: Kinasewitz
authors.forename: Kelley V
authors.initials: KV
authors.lastname: Scott
authors.forename: Francesca
authors.initials: F
authors.lastname: Bates
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic / Q000235:genetics*