Y-AUTOSOME TRANSLOCATION AND INFERTILITY - USEFULNESS OF MOLECULAR, CYTOGENETIC AND MEIOTIC STUDIES

An apparently balanced reciprocal translocation 46,X,t(Y;6) (q11.23 si milar to q12;p11.1) was observed in an infertile man with severe oligo zooteratozoospermia., Different mitotic chromosome banding patterns we re performed and fluorescence in situ hybridization indicated a breakp oint in the fluorescent Yq heterochromatin. Molecular genetic deletion experiments for azoospermia factor region in distal Yq11 showed the r etention of the DAZ gene and meiotic pairing configurations suggested that the man's infertility could bz due to the pairing behaviour of th e Y:6 translocation chromosome with the X chromosome visualised by syn aptonemal complex analysis at the electron microscopy level, The morph ological appearance of the normal chromosome 6 and the Y;6 ?translocat ed chromosome included in the compartment of the sex vesicle may allow an explanation of the degeneration of most spermatocytes after the pa chy tone stage.