Abstract
The case was male, 32 years old, with a nonobstructive azoospermia diagnosis and an initial 45,X karyotype. We evaluated by classical cytogenetic methods, C and NOR banding, fluorescent in situ hybridization, and polymerase chain reaction investigations. After investigation, we found the following karyotype: 45,X,dic(Y;22)(q11.223;p11.2). This investigation contributes to our understanding of how chromosome rearrangements can influence fertility processes and how important it is to perform a cytogenetic analysis in infertility cases.
References
1.
Arnemann J, Schnittger S, Hinkel GK, et al: A sterile male with 45,X0 and a Y;22 translocation. Hum Genet 1991;87:134-138.
2.
Brisset S, Izard V, Misrahi M, et al: Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report. Hum Reprod 2005;20:2168-2172.
3.
Lemyre E, Kaloustian V, Duncan A: Stable non-Robertsonian dicentric chromosomes: four new cases and a review. J Med Genet 2001;38:76-79.
4.
Borie C, Léger J, Dupuy O, et al: Translocation (Y;22) resulting in the loss of SHOX and isolated short stature. Am J Med Genet A 2004;125A:186-190.
5.
Callen DF, Sutherland GR, Carter RF: A fertile man with tdic(Y;22): how a stable neo-X1X2Y sex-determining mechanism could evolve in man. Am J Med Genet Suppl 1987;3:151-155.
6.
Morales C, Soler A, Bruguera J, et al: Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion. Cytogenet Genome Res 2007;116:319-323.
7.
Fisher AM, Al-Gazali L, Pramathan T, et al: Centromeric inactivation in a dicentric human Y;21 translocation chromosome. Chromosoma 1997;106:199-206.
8.
Siffroi JP, Benzacken B, Angelopoulou R, et al: Alternative centromeric inactivation in a pseudodicentric t(Y;13)(q12;p11.2) translocation chromosome associated with extreme oligozoospermia. J Med Genet 2001;38:802-806.
9.
Van Assche E, Bonduelle M, Tournaye H, et al: Cytogenetics of infertile men. Hum Reprod 1996;11(suppl 4):1-24.
© 2014 S. Karger AG, Basel
2014
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.