Reciprocal translocation between Y chromosome long arm euchromatin and the short arm of chromosome 1.
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.
Pabst
Brigitte
B
Institute of Human Genetics, Hannover Medical School, 30623 Hannover, Germany. Pabst.B@mh-hannover.de
Glaubitz
Ralf
R
Schalk
Thomas
T
Schneider
Ulrich
U
Schulze
Wolfgang
W
Miller
Konstantin
K
D000328:Adult; D002878:Chromosomes, Human, Pair 1; D022041:Euchromatin; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D012670:Seminiferous Epithelium / Q000166:cytology; D014178:Translocation, Genetic; D014998:Y Chromosome
D022041:Euchromatin