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.

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Brigitte, Pabst Ralf, Glaubitz Thomas, Schalk Ulrich, Schneider Wolfgang, Schulze Konstantin, Miller,.Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1.. 45 (1),5-8.

Brigitte, Pabst Ralf, Glaubitz Thomas, Schalk Ulrich, Schneider Wolfgang, Schulze Konstantin, Miller,"Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1." 45

Brigitte, Pabst Ralf, Glaubitz Thomas, Schalk Ulrich, Schneider Wolfgang, Schulze Konstantin, Miller,"Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1."