A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products.
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.
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000648:ultrastructure*; D002871:Chromosome Banding; D005260:Female; D005333:Fetus / Q000473:pathology; D006059:Gonadal Dysgenesis / Q000175:diagnosis*; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis