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Prenatal diagnosis of 46,XY/46,XX mosaicism: a case report
Y Yaron1, B Feldman, R L Kramer
1Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan 48201, USA.
Abstract:
We report on the prenatal diagnosis of a fetus with 46,XY and 46,XX cell lines with a normal male phenotype. Cytogenetic and molecular studies ruled out the possibility of maternal cell contamination and showed that all the X chromosomes present in both fetal cell lines were derived from a single maternal X chromosome. This suggests 46,XY/46,XX mosaicism.
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