Chapter

Parental Sex Chromosome Aneuploidy

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer

in Chromosome Abnormalities and Genetic Counseling

Fourth edition

Published on behalf of Oxford University Press

Published in print November 2011 | ISBN: 9780195375336
Published online October 2012 | e-ISBN: 9780199975174 | DOI: http://dx.doi.org/10.1093/med/9780195375336.003.0013

Series: Oxford Monographs on Medical Genetics

Parental Sex Chromosome Aneuploidy

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THERE ARE FOUR MAJOR sex chromosome abnormalities. Otherwise unassisted, infertility is practically inevitable in XXY Klinefelter syndrome and 45,X Turner syndrome, and almost always in Turner variants. The other two conditions, XXX and XYY, apparently have little effect on fertility; furthermore, they are not discernibly associated with any increased risk for chromosomally abnormal offspring. Mosaic forms need to be considered on their own merits.

Chapter.  6408 words.  Illustrated.

Subjects: Clinical Genetics

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