48, XXYY

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


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

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. p. 179. ISBN 0-7216-0187-1.
  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)
  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)

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