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Prenat Diagn. 1993 Apr;13(4):301-6.

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX,+18/70,XXX,+18 mosaic. A remarkable diploid-triploid discrepancy after CVS.

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  • 1Department of Human Genetics, State University of Groningen, The Netherlands.


A 70,XXX,+18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.

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