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Anomalies des autosomes et infertilité masculine

Autosomal rearrangements and male infertility

Resume

Il existe fréquemment une réduction de la gamètogenèse chez les sujets masculins porteurs de remaniements du nombre et de la structure des autosomes. En vue d’une étude de la méiose de ces patients, des biopsies testiculaires ont été effectuées chez des porteurs de translocations réciproques, de fusions centriques, d’inversions et d’extra chromosomes. Le rôle respectif du retard d’appariement des chromosomes remaniés et de leur association avec le bivalent sexuel dans la genèse des altérations de la spermatogenèse a été discuté.

Abstract

Spermatogenesis impairment is frequently associated with autosomal rearrangements. A meiotic study was performed on testicular biopsies of men ascertained through primary fertility and found to be heterozygous for reciprocal translocation, Robertsonian translocations, inversions and extra chromosomes. Pairing failure at meiosis as well as intimate associations between rearranged autosomes and the XY bivalent have been discussed as a cause of gametogenic arrest.

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Rumpler, Y., Gabrel-Robez, O. Anomalies des autosomes et infertilité masculine. Androl. 4, 205–214 (1994). https://doi.org/10.1007/BF03034286

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