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Alternatively, postzygotic nondisjunction in a 46, XY zygote could give rise to 45, X/47, XYY mosaicism.Either exclusion of the 45, X line or selection in favor of the 47, XYY line could result in an apparently “pure” 47, XYY zygote.The evidence of fertility of 47, XYY males is limited; however, the sons of 47, XYY males usually show normal 46, XY complements.

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Robinson and associates summarized the findings of 43 47, XYY infants prospectively ascertained through various chromosome surveys of unselected neonates.

About a third of the children showed delayed speech or language development (7 of 18), an increased frequency over their siblings and controls.

Henry and Emma Meyer Chair in Obstetrics and Gynecology, Professor, Obstetrics and Gynecology, Professor, Molecular and Human Genetics, Director, Division of Reproductive Medicine, Baylor College of Medicine, Houston, Texas Professor of Obstetrics and Gynecology and Molecular Genetics; Director, Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Illinois at Chicago, Chicago, Illinois Both polysomy Y in males (47, XYY; 48, XYYY; 48, XXYY; 49, XXYYY) and polysomy X in females (47, XXX; 48, XXXX; 49, XXXXX) may be encountered by obstetricians-gynecologists as (1) an abnormal fetal chromosome complement detected by chorionic villus sampling, amniocentesis, or percutaneous umbilical blood sampling or (2) part of an evaluation for infertility, abnormal sexual development, other congenital malformations, or mental aberrations.

Polysomic sex chromosome complements may also provide valuable information concerning sex chromosome function and abnormalities of meiosis or mitosis.

In this chapter epidemiologic data and clinical features of polysomy X and polysomy Y will be reviewed as well as recommendations for counseling both affected individuals and women carrying affected fetuses.

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