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Klinefelter syndrome

Definition

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

Alternative Names

47 X-X-Y syndrome

Causes

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

Klinefelter syndrome results in males who have at least one extra X chromosome. Usually, this occurs as a result of one extra X (written as XXY).

Klinefelter syndrome is found in about 1 out of every 500-1,000 newborn males. Women who have pregnancies after age 35 are slightly more likely to have a boy with this syndrome than younger women.

Review Date: 12/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

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