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Hum. Reprod. Advance Access published online on April 21, 2005
Human Reproduction, doi:10.1093/humrep/dei034
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org
Received September 16, 2004
Revised March 22, 2005
Accepted March 31, 2005

Case Report

Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report

S. Brisset 1*, V. Izard 2, M. Misrahi 3, A. Aboura 1, S. Madoux 1, S. Ferlicot 4, D. Schoevaert 5, J.C. Soufir 5, R. Frydman 6, and G. Tachdjian 1

1 Service de Génétique et Reproduction, Hôpital Antoine Béclère, 92140 Clamart, France and
2 Service d'Urologie-Andrologie, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France,
3 Laboratoire d'Hormonologie et de Biologie Moléculaire, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France,
4 Service d'Anatomie et Cytologie Pathologiques, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France and
5 Laboratoire de Biologie Andrologique, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France
6 Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, 92140 Clamart, France,

* To whom correspondence should be addressed.
S. Brisset, E-mail: sophie.brisset{at}abc.ap-hop-paris.fr


  Abstract

(Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year old male with azoospermia was found to have a mosaic 45,X/46,X, + mar karyotype. Fluorescence in situ hybridization (FISH) showed the presence of a derivative Y chromosome containing the short arm, the centromere and a small proximal part of the long-arm euchromatin of the Y chromosome and the long arm of chromosome 22. The unstable small marker chromosome included the short arm and the centromere of chromosome 22. This unbalanced translocation t(Y;22)(q11.2;q11.1) generated the loss of the long arm of the Y chromosome involving a large part of AZFb, AZFc and Yq heterochromatin regions. Testicular tissue analyses showed sperm in the wet preparation. Our case shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.

Keywords: AZF deletions; azoospermia; genotype-phenotype correlation; testicular biopsy; (Y;autosome) translocation.
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