XXYY syndrome

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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.

See also

• Klinefelter's syndrome
• XYY syndrome

References

External links

• The XXYY Project

v • d • e Pathology: chromosome abnormalities (Q90-Q99, 758)
Autosomal trisomies	Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16
Autosomal monosomies/deletions	Wolf-Hirschhorn syndrome (4), Cri du chat (5), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22)
X/Y linked	Monosomy: Turner syndrome (XO) Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY, Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY
Translocations	Philadelphia chromosome, Burkitt's lymphoma
Other	Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)

v • d • e WikiDoc Research Resources for XXYY syndrome
Articles on XXYY syndrome	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 (Slides, Video, Images, MP3) on XXYY syndrome	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 Regarding XXYY syndrome	Cochrane Collaboration on XXYY syndrome • Bandolier on XXYY syndrome • TRIP on XXYY syndrome
Cost Effectiveness of XXYY syndrome	Cost Effectiveness of XXYY syndrome
Clinical Trials Involving XXYY syndrome	Ongoing Trials on XXYY syndrome at Clinical Trials.gov • Trial results on XXYY syndrome • Clinical Trials on XXYY syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding XXYY syndrome	US National Guidelines Clearinghouse on XXYY syndrome • NICE Guidance on XXYY syndrome • NHS PRODIGY Guidance • FDA on XXYY syndrome • CDC on XXYY syndrome
Textbook Information on XXYY syndrome	Books and Textbook Information on XXYY syndrome
Pharmacology Resources on XXYY syndrome	Dosing of XXYY syndrome • Drug interactions with XXYY syndrome • Side effects of XXYY syndrome • Allergic reactions to XXYY syndrome • Overdose information on XXYY syndrome • Carcinogenicity information on XXYY syndrome • XXYY syndrome in pregnancy • Pharmacokinetics of XXYY syndrome •
Genetics, Pharmacogenomics, and Proteinomics of XXYY syndrome	Genetics of XXYY syndrome • Pharmacogenomics of XXYY syndrome • Proteomics of XXYY syndrome
Newstories on XXYY syndrome	XXYY syndrome in the news • Be alerted to news on XXYY syndrome • News trends on XXYY syndrome
Commentary on XXYY syndrome	Blogs on XXYY syndrome
Patient Resources on XXYY syndrome	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 on XXYY syndrome	Symptoms of XXYY syndrome • Causes & Risk Factors for XXYY syndrome • Diagnostic studies for XXYY syndrome • Treatment of XXYY syndrome
Continuing Medical Education (CME) Programs on XXYY syndrome	CME Programs on XXYY syndrome
International Resources on XXYY syndrome	XXYY syndrome en Espanol • XXYY syndrome en Francais
Business Resources on XXYY syndrome	XXYY syndrome in the Marketplace • Patents on XXYY syndrome
Informatics Resources on XXYY syndrome	List of terms related to XXYY syndrome