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Keywords: Mosaicism
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Journal Articles

45,X/46,XY Mosaicism with Male Phenotype: Case Report

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Angie Carolina Carreño-Martínez, Victor Clemente Mendoza Rojas, Julian Arturo Gil Forero, Victor Hugo Figueroa, Gustavo Adolfo Contreras-García
Journal: Urologia Internationalis
Urol Int (2022) 106 (5): 533–536.
https://doi.org/10.1159/000519368
Published Online: 20 December 2021
...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...
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Journal Articles

A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism

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Emre Can Akinsal, Numan Baydilli, Ruslan Bayramov, Oguz Ekmekcioglu
Journal: Urologia Internationalis
Urol Int (2018) 101 (4): 481–485.
https://doi.org/10.1159/000484615
Published Online: 21 November 2017
... 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...
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Journal Articles

Infertility and Multiple Urogenital Abnormalities in a Male with Mosaic 46,XY/45,XO/47,XXY Karyotype and Mixed Phenotype

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Ioannis F. Filiadis, Maria B. Syrrou, Maria C. Bai, Ioannis A. Georgiou, Gerasimos N. Pagoulatos, Xenophon Giannakopoulos
Journal: Urologia Internationalis
Urol Int (1998) 61 (2): 111–114.
https://doi.org/10.1159/000030299
Published Online: 07 January 1999
...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...
View article titled, Infertility and Multiple Urogenital Abnormalities in a Male with Mosaic 46,XY/45,XO/47,XXY Karyotype and Mixed Phenotype
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