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Acute Lymphoblastic Leukemia in a 46,XY/47,XYY Mosaic Male: Clonal Origin of Leukemia in the XY-Bearing Stem-Cell Line

JEFFREY W. TAUB, MD; YADDANPUDI RAVINDRANATH, MBBS; ANWAR N. MOHAMED, MD; SANDRA R. WOLMAN, MD; ERAWATI V. BAWLE, MD
Am J Dis Child. 1993;147(11):1254-1255. doi:10.1001/archpedi.1993.02160350128021.
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Sir.—There have been several reports of individuals with the 47,XYY chromosome constitution developing acute lymphoblastic leukemia (ALL), acute myeloid leukemia, chronic myelogenous leukemia, or other malignancies.1-13 Furthermore, it has been speculated that individuals with constitutional chromosomal abnormalities, including the 47,XYY constitution, have a predispositon to develop leukemia, similar to that observed with trisomy 21.5,8,14 We report herein a case of a 3½-year-old boy who was diagnosed as having ALL and was found to have a 46,XY/47,XYY constitutionally mosaic karyotype, with the aberrant hyperdiploid chromosome clone arising from the XY-bearing cell line.

Patient Report.  —A previously healthy 3½-year-old boy presented with a history of fever, cough, and pallor of 1 week's duration. The physical examination findings were normal except for pallor. Growth and development were normal. A complete blood cell count showed pancytopenia. A bone marrow examination showed patchy infiltration with leukemic lymphoblasts, with areas of the marrow

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