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.
Original language | English |
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Pages (from-to) | 12-14 |
Number of pages | 3 |
Journal | American Journal of Medical Genetics |
Volume | 84 |
Issue number | 1 |
DOIs | |
State | Published - 7 May 1999 |
Externally published | Yes |
Keywords
- 46,XX/46,XY mosaicism
- Phenotype
- Prenatal diagnosis