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Clinical Pediatrics, Vol. 45, No. 4, 301-313 (2006)
DOI: 10.1177/000992280604500402
© 2006 SAGE Publications

Turner Syndrome: An Update and Review for the Primary Pediatrician

Brandy H. Doswell, BA, BS

Emory University School of Medicine, Atlanta, GA

Jeannie Visootsak, MD

Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA

April N. Brady, MS

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA

John M. Graham, Jr, MD, ScD

Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA

Turner syndrome (TS) is among the most common of the sex chromosomal aneuploidies. It results from the absence of one sex chromosome (or part of an X chromosome) in a female, leaving only one X chromosome present in the cell. Primary care physicians should be able to recognize the presenting signs and symptoms of TS, and once the diagnosis is confirmed by a chromosome analysis, they should be able to serve as a valuable source of support for the patient and her family and understand the most current treatments available.


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