XXYY syndrome

	WikiDoc Resources for XXYY syndrome
Articles
Most recent articles on XXYY syndrome Most cited articles on XXYY syndrome Review articles on XXYY syndrome Articles on XXYY syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on XXYY syndrome Images of XXYY syndrome Photos of XXYY syndrome Podcasts & MP3s on XXYY syndrome Videos on XXYY syndrome
Evidence Based Medicine
Cochrane Collaboration on XXYY syndrome Bandolier on XXYY syndrome TRIP on XXYY syndrome
Clinical Trials
Ongoing Trials on XXYY syndrome at Clinical Trials.gov Trial results on XXYY syndrome Clinical Trials on XXYY syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on XXYY syndrome NICE Guidance on XXYY syndrome NHS PRODIGY Guidance FDA on XXYY syndrome CDC on XXYY syndrome
Books
Books on XXYY syndrome
News
XXYY syndrome in the news Be alerted to news on XXYY syndrome News trends on XXYY syndrome
Commentary
Blogs on XXYY syndrome
Definitions
Definitions of XXYY syndrome
Patient Resources / Community
Patient resources on XXYY syndrome Discussion groups on XXYY syndrome Patient Handouts on XXYY syndrome Directions to Hospitals Treating XXYY syndrome Risk calculators and risk factors for XXYY syndrome
Healthcare Provider Resources
Symptoms of XXYY syndrome Causes & Risk Factors for XXYY syndrome Diagnostic studies for XXYY syndrome Treatment of XXYY syndrome
Continuing Medical Education (CME)
CME Programs on XXYY syndrome
International
XXYY syndrome en Espanol XXYY syndrome en Francais
Business
XXYY syndrome in the Marketplace Patents on XXYY syndrome
Experimental / Informatics
List of terms related to XXYY syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

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]

Incidence

It affects one in every 18,000-40,000 male births. ^[2]

Presentation

Common features include tall stature, gynecomastia, truncal obesity, skin ulcers, and a craniofacial dysmorphism described as a "pugilistic" facial appearance.

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

↑ 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)

External links

The XXYY Project

Template:Chromosomal abnormalities Template:SIB

Template:WH Template:WS

[isbn0-7216-0187-1-1] 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.

[pmid18481271-2] 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_1960-3] 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)

[1]

[2]

[3]