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Diseases

Genetic and Rare Diseases Information Center (GARD)

49, XXXYY syndrome


Other Names for this Disease
  • XXXYY syndrome
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Overview

49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 5/17/2016

References

  1. Linden MG, Bender BG, Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics. October 1995; 96(4 pt 1):672-682.
  2. Cowie VA, Singh KR, Wheater R. 49, XXXYY chromosome anomaly in a mentally retarded man. Br J Psychiatry. February 1986; 148:210-212.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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, XXXYY syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • XXXYY 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.