title: Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation.
abstract: Here, we report a 72-year-old male patient with acute myeloid leukemia (AML) without maturation. Cytogenetic study of a bone marrow culture revealed the following karyotype: 47,XX,+21,+i(21)(q10)x2. Fluorescence in situ hybridization study with a locus specific probe for 21q22 verified a pentasomy of 21q as a sole clonal cytogenetic abnormality. To our knowledge, this is the first report of pentasomy 21q in AML without Down syndrome.
authors.affiliation: Laboratori de Citologia Hematològica, Escola de Citologia Hematològica S. Woessner-IMAS, Hospital del Mar, IMAS, IMIM, Barcelona, Spain. e0037@imas.imim.es
authors.forename: Marta
authors.initials: M
authors.lastname: Salido
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.forename: Blanca
authors.initials: B
authors.lastname: Espinet
authors.forename: Cristalina
authors.initials: C
authors.lastname: Fernández
authors.forename: Lourdes
authors.initials: L
authors.lastname: Zamora
authors.forename: Soledad
authors.initials: S
authors.lastname: Woessner
authors.forename: Lourdes
authors.initials: L
authors.lastname: Florensa
mesh_terms: D000368:Aged; D000782:Aneuploidy; D015703:Antigens, CD / Q000032:analysis; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics*; D008297:Male
chemical_list: D015703:Antigens, CD