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Genetic and Rare Diseases Information Center (GARD)

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49,XXXXY syndrome


Other Names for this Disease

  • 49,XXXXY
  • XXXXY syndrome
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Overview

49,XXXXY syndrome is a type of chromosome abnormality in which there are 3 additional X chromosomes in each cell of the body. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 49,XXXXY syndrome can vary, but often include learning difficulties and intellectual disability that may worsen with age; delayed growth; severe hypogonadism; distinctive facial features; and a variety of birth defects that may affect the heart, bones, brain and/or kidneys. It is usually not inherited and is caused by a random error in cell division. Treatment depends on the features in each affected person and is often managed by a multidisciplinary team. Life expectancy is essentially normal.[1]
Last updated: 10/16/2014

References

  1. Carole Corsini and Pierre Sarda. 49,XXXXY syndrome. Orphanet. May, 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264. Accessed 10/16/2014.
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In Depth Information

  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss 49,XXXXY syndrome. Click on the link to view a sample search on this topic.
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 49,XXXXY syndrome. 

Selected Full-Text Journal Articles

Other Names for this Disease
  • 49,XXXXY
  • XXXXY syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.