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The Journal of the American Board of Family Practice 18:132-139 (2005)
© 2005 American Board of Family Practice

Brief Report

Unsuspected Klinefelter Syndrome Diagnosed during Oncologic Evaluation: A Case Series

Margaret M. Eberl, MD, Maria R. Baer, MD, Martin C. Mahoney, MD, PhD, Sheila N. J. Sait, PhD, AnneMarie W. Block, PhD and Carolyn D. Farrell, MS, CNP, CGC

Division of Cancer Prevention & Population Sciences (MME, MCM), Roswell Park Cancer Institute, Buffalo, NY
Leukemia Section, Department of Medicine (MRB), Roswell Park Cancer Institute, Buffalo, NY
Clinical Cytogenetics Laboratory, Department of Pathology and Laboratory Medicine (SNJS, AWB), Roswell Park Cancer Institute, Buffalo, NY
Clinical Genetics Service, Department of Cancer Genetics (CDF), Roswell Park Cancer Institute, Buffalo, NY
Departments of Social & Preventive Medicine and Family Medicine and the School of Public Health & Health Professions, State University of New York at Buffalo (MME, MCM)

Correspondence: Address correspondence to Margaret M. Eberl, MD, Division of Cancer Prevention & Population Sciences, Roswell Park Cancer Institute, Carlton House, Elm and Carlton Streets, Buffalo, NY 14263 (e-mail: margaret.eberl{at}roswellpark.org)

Abstract

Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management. This report presents 5 adult male patients diagnosed with previously unsuspected Klinefelter syndrome as a result of cytogenetic testing for suspected hematologic malignancies. This case series highlights the importance of maintaining a comprehensive and holistic approach to medical care. The medical, genetic, and psychosocial implications of the Klinefelter diagnosis are discussed.




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An Outstanding Analysis!
Roberta S. Rappaport
JABFM Online, 8 Apr 2005 [Full text]

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Copyright © 2005 by the American Board of Family Medicine.