Normal karyotype in cultured chorionic villus cells,but mosaicism in amniotic and fetal cells |
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| Authors: | N H Birkebæk E E Andreasen M Ramsings U V Henriques G Bruun-Petersen |
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| Institution: | 1. Department of Clinical Genetics, H. O. Wildenskovvej 10. DK 7080 Børkop, Denmark;2. Department of Obstetrics and Gynecology, Kolding Hospital, DK 6000 Kolding, Denmark;3. Department of Pathology. Århus University Hospital, 8000 Århus C. Denmark |
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| Abstract: | A case with a normal male karyotype in cultured chorionic villus cells, but 46,XY/45,X/ 46,X,i(Yq) mosaicism in amniotic and fetal tissue is reported. The fetus was a phenotypic male. Pathological examination revealed discrete features, which might indicate a syndrome, and histological examination showed large, bright cells in the tubules of the testes. Possible explanations for discordance between the karyotype of embryonic and extraembryonic tissue are discussed. |
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| Keywords: | Chorionic villus culture False-negative karyotype 45 X/46 XY/46 X i(Yq) mosaicism Long-term culture |
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