Klinefelter syndrome (KS), a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML) with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review and discuss relevant prior literature.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421110PMC
http://dx.doi.org/10.1016/j.lrr.2015.04.001DOI Listing

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