Abstract
We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X), and a predominantly 46,XY karyotype in the ovary (95% 46,XY and 5% 45,X).
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© 2011 Springer Science+Business Media, LLC
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Dumic, M. et al. (2011). Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development. In: New, M., Simpson, J. (eds) Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference. Advances in Experimental Medicine and Biology, vol 707. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-8002-1_36
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DOI: https://doi.org/10.1007/978-1-4419-8002-1_36
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