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. 2002 Jan 1;132(1):71-3.
doi: 10.1016/s0165-4608(01)00529-5.

Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation

Marta Salido  1 , Francesc Solé, Blanca Espinet, Cristalina Fernández, Lourdes Zamora, Soledad Woessner, Lourdes Florensa
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Pentasomy 21 with two isochromosomes 21 in a case of acute myeloid leukemia without maturation

Marta Salido et al. Cancer Genet Cytogenet. .

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.

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