...Angie Carolina Carreño-Martínez; Victor Clemente Mendoza Rojas; Julian Arturo Gil Forero; Victor Hugo Figueroa; Gustavo Adolfo Contreras-García Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present...

... cases were azoospermic and testicular biopsy showed Sertoli cell-only syndrome. Peripheral blood karyotype revealed 45,X/46,XY mosaicism in all cases. Metaphase counts and percentages were different. Conclusions: Individuals with 45,X/46,XY mosaicism that have a normal male phenotype form make up a rare...

...Ioannis F. Filiadis; Maria B. Syrrou; Maria C. Bai; Ioannis A. Georgiou; Gerasimos N. Pagoulatos; Xenophon Giannakopoulos We hereby present a rare case of a 46,XY/45,XO/47,XXY mosaic male patient with a predominance of the XY cell line. The patient, who exhibited phenotypic stigmata of both XO...