A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility

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Abstract
Whole mount pachytene spreads were used to investigate the pairing of a supposed balanced reciprocal t(4;9) translocation in a human male ascertained for subfertility. All well spread pachytene spermatocytes analysed by light microscopy and electron microscopy contained a hexavalent instead of the expected quadrivalent this suggesting that a third chromosome was involved. The hexavalent showed a high efficiency of synapsis with the six arms fully paired except for the proximal segments adjacent to the breakpoints. Further meiotic investigations by the air-drying technique and the reassessment of the mitotic karyotype using stretched chromosomes revealed that the rearrangement is indeed a complex three breakpoint translocation t(2;4;9)(p13;q25;p12). There was an indication of a reduced chiasma frequency of the hexavalent but no interchromosomal effect on chiasma pattern could be detected. No selective association between the hexavalent and the XY configuration was found at any stage, and unless the central lack of pairing is of relevance we have no explanation for the subfertility and reduced testicular size. Except for the hexavalent the most impressive feature of the meiosis of this complex translocation was in fact its normality including the end product with repeated spermiograms being indistinguishable from the normal. Karyotyping of individual spermatozoa has, however, not been performed.