A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products |
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| Authors: | Steen Smidt-Jensen Anne-Marie Lind |
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| Institution: | Department of Obstetrics and Gynecology, University Hospital, Copenhagen, Denmark. |
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| Abstract: | The advantages of the emergence and development of chorionic villi sampling (CVS) for early prenatal diagnosis are evident, but there are a host of new diagnostic problems caused by the use of extraembryonic tissues. We report a case in which 45X/46XY mosaicism was diagnosed by cultivation of chorionic villi and fetal cells. Direct chromosomal preparations of chorionic villi failed to diagnose the abnormality. |
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| Keywords: | prenatal diagnosis chorionic villi sampling chromosomal mosaicism |
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