Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1.

Abstract

A case with an apparently balanced reciprocal translocation between the long arm of the Y chromosome and the short arm of chromosome 1 t(Y;1)(q11.2;p34.3) is described. The translocation was found in a phenotypically normal male ascertained by infertility and presenting for intra-cytoplasmatic sperm injection treatment. Histological examination of testicular biopsies revealed spermatogenic failure. Chromosome painting with probes for chromosome 1 and for the euchromatic part of the Y chromsome confirmed the translocation of euchromatic Y chromosomal material onto the short arm of chromosome 1 and of a substantial part of the short arm of chromosome 1 onto the Y chromosome. Among the Y/autosome translocations, the rearrangements involving long arm euchromatin of the Y chromosome are relatively rare and mostly associated with infertility. Microdeletion screening at the azoospermia locus revealed no deletions, suggesting another mechanism causing infertility in this translocation carrier.

Cite this paper

@article{Pabst2002ReciprocalTB, title={Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1.}, author={Brigitte Pabst and Ralf Glaubitz and Thomas B. Schalk and U. Schneider and Wolfgang Schulze and Konstantin Miller}, journal={Annales de génétique}, year={2002}, volume={45 1}, pages={5-8} }