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Updated: May 13, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
[Azoospermia and 45,X/46,XY chromosomal mosaicism: a case report]
M Le Chatton1, A Zaccabri, M Agopiantz
1Laboratoire de biologie de la reproduction, université de Lorraine, maternité régionale universitaire de Nancy, 10, rue du Docteur-Heydenreich, 54000 Nancy, France. melanie.lec1@voila.fr
Abstract:
Chromosomal abnormalities are common in patients with oligozoospermia or azoospermia. We report the case of a 32-year patient, with male phenotype, and without hormonal or morphological abnormalities, with a severely reduced spermatogenesis. It was revealed a 45,X/46,XY gonadal dysgenesis. We have reviewed the various problems inherent in the discovery of this rare gonadal dysgenesis, including genetic, cancer and fertility risks.
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