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November 1993

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

Author Affiliations

Division of Pediatric Hematology/Oncology Children's Hospital of Michigan 3901 Beaubien Blvd Detroit, MI 48201
Department of Pathology Wayne State University School of Medicine Detroit
Division of Genetics and Metabolic Disorders Children's Hospital of Michigan
Department of Pediatrics Wayne State University School of Medicine

Am J Dis Child. 1993;147(11):1254-1255. doi:10.1001/archpedi.1993.02160350128021

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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