title: A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I of meiosis.
abstract: Details are given of a meiotic prophase analysis, carried out by spreading, of a human 9;20 reciprocal translocation ascertained in a subfertile, oligospermic male. Air-dried meiotic preparations revealed the presence of translocation quadrivalents at metaphase I. Germ-cell degeneration was evident from the early prophase of meiosis onward. Associations between the translocation quadrivalent and XY bivalent at pachytene were seen in only 20% of the cells and seemed not to be the prime cause of germ-cell failure. Pairing disruption around the breakpoints of the translocation at pachytene and/or pairing failure in one arm of the pachytene cross was observed in a total of 87% of all cells analyzed. This could have contributed significantly to germ-cell atresia.
mesh_terms: D002478:Cells, Cultured; D002871:Chromosome Banding; D002903:Chromosomes, Human, 19-20; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D008540:Meiosis; D008677:Metaphase; D009845:Oligospermia / Q000235:genetics*; D011418:Prophase; D014178:Translocation, Genetic