Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.


A female twin with short stature, unusual facial appearance, widely spaced nipples, and coarctation of the aorta was found to have a peripheral blood lymphocyte karyotype of 45,X(43%)/46,X,idic(Y)(p11). Her twin brother, also short with similar facial appearance, had the same mosaicism (40% 45,X). Cultured skin fibroblast studies showed discrepant karyotypes of 45,X (100%) in the girl and 45,X (78%)/46,X,idic(Y)(p11) in the boy. The mother and the father had normal chromosomes. Comparison of 27 biochemical markers yielded a likelihood of monozygosity of 0.9977. This report documents the occurrence of discordant phenotypic sex in monozygotic twins, involving gonadal dysgenesis with an abnormal dicentric Y, which presumably occurred de novo, followed by anaphase lag probably before the occurrence of twinning. Unequal distribution of the two resultant cell lines in various tissues of each twin could account for the development of the very different phenotypes, apparently normal boy and Ullrich-Turner girl.


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@article{Fujimoto1991MonozygoticTO, title={Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.}, author={Atsuko Fujimoto and W D Boelter and Robert S. Sparkes and Mei Shan Lin and Katherine Battersby}, journal={American journal of medical genetics}, year={1991}, volume={41 2}, pages={239-45} }