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This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about 1 in 500 live male births. In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation.This happens in XXY males as well as normal XX females. Additional chromosomal material can contribute to cardiac, neurological, orthopedic and other anomalies.Thus far, only about 10 cases have been described in literature.Analogous XXY syndromes are known to occur in cats—specifically, the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype.Fertilizing a double X egg with a normal sperm also produces an XXY offspring (Klinefelter).Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg.

As babies and children, XXY males may have weaker muscles and reduced strength.Nondisjunction will occur when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate.(meiosis) An XX egg is produced which, when fertilized with a Y sperm, yields XXY offspring.Children with XXY differ little from other children.Although they can face problems during adolescence, often emotional and behavioral, and difficulties at school, most of them can achieve full independence from their families in adulthood. The results of a study carried out on 87 Australian adults with the syndrome shows that those who have had a diagnosis and appropriate treatment from a very young age had a significant benefit with respect to those who had been diagnosed in adulthood.

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