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Case Report
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Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report
Article first published online: 13 AUG 2012
DOI: 10.1111/j.1447-0756.2012.01956.x
© 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology
Additional Information
How to Cite
Battaglia, F., Plotti, F., Angelucci, M., Aloisi, A. and Angioli, R. (2013), Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report. Journal of Obstetrics and Gynaecology Research, 39: 442–445. doi: 10.1111/j.1447-0756.2012.01956.x
Publication History
- Issue published online: 7 JAN 2013
- Article first published online: 13 AUG 2012
- Received: October 24 2011.; Accepted: May 15 2012.
References
- 1, , et al. Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain. Fertil Steril 2008; 90: 1199.e1–1199.e8.
- 2, , et al. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Eur J Hum Genet 2009; 17: 1642–1649.
- 3, , et al. Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: A single nucleotide polymorphism array analysis. Pediatr Dev Pathol 2010; 13: 66–71.
- 4. Mutational analysis of SRY in females. Hum Mutat 1993; 2: 347–350.
- 5, , . Coexistence of gonadoblastoma and dysgerminoma in a dysgenetic gonad on touch preparation: A case report. Diagn Cytopathol 2011; 39: 42–44.
- 6, , et al. Pure dysgerminoma of the ovary: A review of 45 well staged cases. Eur J Gynaecol Oncol 2000; 21: 98–101.
- 7, , et al. Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers. Endocr Rev 2006; 27: 468–484.