Distinctively different phenotypes of two cases with a rare karyotype of 45,X/47,XYY mosaicism: Case report and literature review
Özge Köprülü1, Sezer Acar1, Kadri Murat Erdoğan2, Özlem Nalbantoğlu1, Tarik Kırkgöz1, Gulçin Arslan1, Beyhan Özkaya1, Yasar Kutbay2, Behzat Özkan11Division of Pediatric Endocrinology, Dr. Behçet Uz Children's Hospital2Department of Medical Genetics, Tepecik Education and Research Hospital, Izmir, Turkey
The 45,X/47,XYY mosaicism is an extremely rare genetic disorder with highly phenotypic manifestations such as ovotesticular disorders of sexual development (DSD), mixed gonadal dysgenesis and Turner’ syndrome. Herein, we report two cases with very distinctive phenotypes despite having the same sex chromosome mosaicism of 45,X/47,XYY. It should be kept in mind that the rare type of sex chromosome mosaicism of 45,X/47,XYY may present with genital phenotype ranging from normal female to male characteristics.
Keywords: 45, X/47, XYY, Turner syndrome, ambiguous genitalia, gonadal dysgenesisÖzge Köprülü, Sezer Acar, Kadri Murat Erdoğan, Özlem Nalbantoğlu, Tarik Kırkgöz, Gulçin Arslan, Beyhan Özkaya, Yasar Kutbay, Behzat Özkan. Distinctively different phenotypes of two cases with a rare karyotype of 45,X/47,XYY mosaicism: Case report and literature review. . 2022; 9(4): 401-408
Corresponding Author: Özge Köprülü, Türkiye
Corresponding Author: Özge Köprülü, Türkiye
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