Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
XXYY syndrome
Introduction
Overview
Overview
48, XXYY syndrome is a sex chromosome anomaly.
It was previously considered to be a variation of Klinefelter’s syndrome. It is still considered a part of the syndrome by some definitions.[1]
Presentation
Presentation
Common features include tall stature, gynecomastia, truncal obesity, skin ulcers, and a craniofacial dysmorphism described as a “pugilistic” facial appearance.
History
History
The first published report of a boy with a 48,XXYY karyotype was by Sylfest Muldal and Charles H. Ockey in Manchester, England in 1960.[3] It was found in a 15-year-old mentally challenged boy who had signs of Klinefelter syndrome; eventually, it appeared that he didn’t have the Klinefelter Syndrome but, as shown above, the XXYY syndrome.
References
References
- ↑ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. p. 179. ISBN 0-7216-0187-1.
- ↑ Tartaglia N, Davis S, Hench A; et al. (2008). “A new look at XXYY syndrome: medical and psychological features”. Am. J. Med. Genet. A. 146A (12): 1509–22. doi:10.1002/ajmg.a.32366. PMID 18481271. Unknown parameter
|month=ignored (help) - ↑ Muldal S, Ockey CH (1960). “The “double male”: a new chromosome constitution in Klinefelter’s syndrome”. Lancet. 276 (7147): 492–3. doi:10.1016/S0140-6736(60)91624-X. Unknown parameter
|month=ignored (help)
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]