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Human Reproduction, Vol. 17, No. 3, 564-569, March 2002
© 2002 European Society of Human Reproduction and Embryology

Molecular and cytogenetic characterization of an azoospermic male with a de-novo Y;14 translocation and alternate centromere inactivation

A.L. Buonadonna1, F. Cariola1, E. Caroppo2, A.Di Carlo1, P. Fiorente1, M.C. Valenzano1, G. D'Amato2 and M. Gentile1,3

1 Department of Medical Genetics and 2 Reproductive Medicine Unit, I.R.C.C.S. `Saverio de Bellis`, 70013 Castellana Grotte (BA), Italy

BACKGROUND: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14)(q12;p11). METHODS AND RESULTS: Cytogenetic, fluorescent in-situ hybridization (FISH) and molecular studies have been performed. A 14/22 (D14Z1/D22Z1) centromere and a Y centromere (DYZ1) probe both showed a signal on the translocation chromosome, confirming its dicentricity. Each copy of the translocation chromosome had only one primary constriction, with inactivation of the Y centromere in most (90%) of the cells. The 14 centromere was inactive in the remaining cells (10%). FISH and molecular deletion mapping analysis allowed acute assignment of the Yq breakpoint to the junction of euchromatin and heterochromatin (Yq12), distal to the AZF gene location (Yq11). CONCLUSIONS: This study supports the hypothesis that in Y/A translocations infertility might be related to meiotic disturbances with spermatogenetic arrest. In addition, sex chromosome molecular investigations, performed on single spermatids, suggest a highly increased risk of producing chromosomally abnormal embryos.

Key words: alternate centromere inactivation/male infertility/Y-autosome translocation

3 To whom correspondence should be addressed at: Department of Medical Genetics, I.R.C.C.S. `Saverio de Bellis`, via della Resistenza, 70013 Castellana Grotte (BA), Italy. E-mail: mattiagentile{at}libero.it

Submitted July 12, 2001


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