Journal of Andrology
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Published-Ahead-of-Print April 4, 2007, DOI:10.2164/jandrol.106.002030

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Azoospermia due to an Unique De Novo Balanced Reciprocal Translocation (Y;1) (q12;q25)

Markus Braun-Falco *, Werner Schempp , Claudia Nevinny-Stickel-Hinzpeter , and Frank-Michael Koehn

* To whom correspondence should be addressed. E-mail: markus.braun-falco{at}uniklinik-freiburg.de.

An apparently balanced de novo reciprocal translocation between the long arms of chromosomes Y and 1 - 46, X, t(Y;1) (q12;q25) - was observed in a phenotypically normal male who presented with azoospermia for testicular sperm extraction. Arrest at the level of secondary spermatocytes was demonstrated by testicular histology. Cytogenetic studies with different banding patterns and molecular analyses using fluorescent in situ hybridization with locus-specific probes for DAZ, CDY, DYZ1 and SYBL1 revealed a breakpoint on the Y chromosome within the heterochromatin region q12 outside the AZF region a, b, and c. Among the Y-autosome translocations involvement of chromosome 1 is relatively rare and in the majority of cases not associated with AZF-deletions. Since a male-specific infertility locus on chromosome 1 has been proposed, infertility in males with t(Y;1) translocations may be caused by a combined mechanism involving certain breakpoints within both chromosomes Y and 1.


Key words: ICSI • Infertility • Reproductive Genetics • Spermatogenesis • AZF • Y chromosome • chromosome 1 • male infertility






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