XXYY 

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48,XXYY syndrome is a sex chromosome anomaly.

It was previously considered to be a variation of Klinefelter's syndrome.citation needed It is still considered a part of the syndrome by some definitions.1

Contents

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

References

  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. pp. 179. ISBN 0-7216-0187-1. 
  2. ^ Tartaglia N, Davis S, Hench A, et al (June 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. 
  3. ^ Muldal S, Ockey CH (August 27, 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. 

External links

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Pathology: chromosome abnormalities (Q90-Q99 · 758)
Autosomal
X/Y linked
Translocations
Gonadal dysgenesis
Other