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Cytogenetic and fluorescent in situ hybridization (FISH) studies were performed on several formalin-fixed tissues obtained from four fetuses diagnosed at amniocentesis as 45,XO-Turner syndrome. Three of the four were phenotypically normal and one had malformations. The three phenotypically normal cases were found to have an additional normal cell line, which may explain their ability to survive, at least to the time of pregnancy termination well into the second trimester. The abnormal 45,XO fetus was not found to be mosaic in all of the tissues examined. In 45,XO cases in which no malformation is detected, the possibility of mosaicism should be raised and thus the counselling should be modified accordingly.
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