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Klinefelter syndrome - Overview

Alternative Names

47 X-X-Y syndrome

Definition of Klinefelter syndrome:

Klinefelter syndrome is the presence of an extra X chromosome in a male.

Causes, incidence, and risk factors:

Humans have 46 chromosomes. Chromosomes contain all of your genes and DNA, the building blocks of the body. The two sex chromosomes determine if you become a boy or a girl. Females normally have two XX chromosomes. Males normally have an X and a Y chromosome.

Klinefelter syndrome is one of a group of sex chromosome problems. It results in males who have at least one extra X chromosome. Usually, this occurs due to one extra X. This would be written as XXY.

Klinefelter syndrome occurs in about 1 out of 500 - 1,000 newborn boys. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women.

  • Reviewed last on: 11/1/2010
  • Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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