Hum. Reprod. Advance Access originally published online on April 21, 2005
Human Reproduction 2005 20(8):2168-2172; doi:10.1093/humrep/dei034
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Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report
1 Service de Génétique et Reproduction and 2 Service de Gynécologie-Obstétrique, Hôpital Antoine Béclère, 92140 Clamart, 3 Service d'Urologie-Andrologie, 4 Laboratoire d'Hormonologie et de Biologie Moléculaire, 5 Service d'Anatomie et Cytologie Pathologiques and 6 Laboratoire de Biologie Andrologique, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France
7 To whom correspondence should be addressed at: Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, 157, rue de la Porte de Trivaux, 92140 Clamart, France. Email: sophie.brisset{at}abc.ap-hop-paris.fr
(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.
Key words: AZF deletions/azoospermia/genotype–phenotype correlation/testicular biopsy/(Y;autosome) translocation
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