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Parental Sex Chromosome Aneuploidy 

Parental Sex Chromosome Aneuploidy
Chapter:
Parental Sex Chromosome Aneuploidy
Author(s):

R. J. McKinlay Gardner

, Grant R. Sutherland

, and Lisa G. Shaffer

DOI:
10.1093/med/9780195375336.003.0013
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date: 06 May 2021

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.

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