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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| Authors: | J. H. A. M. Tuerlings MD A. S. P. M. Breed R. Vosters G. J. P. A. Anders |
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| Affiliation: | 1. Department of Human Genetics, State University of Groningen, The Netherlands;2. Department of Obstetrics and Gynaecology, Rijnstate Ziekenhuis Arnhem, The Netherlands |
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| Abstract: | 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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| Keywords: | Prenatal diagnosis Chorionic villus biopsy Discrepancy Diploid-triploid mosaicism Second gamete fusion |
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