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).
|Title of host publication||Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology|
|Subtitle of host publication||Proceedings of the 2nd World Conference|
|Editors||Maria New, Joe Leigh Simpson|
|Number of pages||2|
|State||Published - 2011|
|Name||Advances in Experimental Medicine and Biology|