Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development

Miroslav Dumic, Maria I. New, Karen Lin-Su, Ken McElreavey, Natasha I. Leibel, Srecko Ciglar, Saroj Nimkarn, Giovanna Vinci, Jean Wilson, Ruzica Lasan

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

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).

Original languageEnglish (US)
Title of host publicationHormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology
Subtitle of host publicationProceedings of the 2nd World Conference
EditorsMaria New, Joe Leigh Simpson
Pages169-170
Number of pages2
DOIs
StatePublished - Jul 29 2011

Publication series

NameAdvances in Experimental Medicine and Biology
Volume707
ISSN (Print)0065-2598

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Dumic, M., New, M. I., Lin-Su, K., McElreavey, K., Leibel, N. I., Ciglar, S., Nimkarn, S., Vinci, G., Wilson, J., & Lasan, R. (2011). Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development. In M. New, & J. L. Simpson (Eds.), Hormonal and Genetic Basis of Sexual Differentiation Disorders and Hot Topics in Endocrinology: Proceedings of the 2nd World Conference (pp. 169-170). (Advances in Experimental Medicine and Biology; Vol. 707). https://doi.org/10.1007/978-1-4419-8002-1_36