Abstract
The meiotic behaviour of a balanced translocation involving the short arms of chromosomes 5 and 22 has been analyzed by reconstructions of lateral components and synaptonemal complexes at early and mid pachytene in human spermatocytes. At early pachytene, the normal chromosome 5 and the segment translocated onto chromosome 22 are paired with a synaptonemal complex in all 8 nuclei reconstructed, while pairing between the normal chromosome 22 and the translocation chromosome 5 was never observed. The pairing pattern was less regular at mid pachytene where a quadrivalent was observed in only 3 out of the 4 nuclei analyzed, while in the fourth nucleus, pairing was in part nonhomologous: the segment translocated onto chromosome 22 exhibited foldback pairing with itself and the short arm of the normal chromosome 5 was paired with the differential segment of the X chromosome. The short arms of translocation chromosome 5 and the normal chromosome 22 were paired in only one mid pachytene nucleus. Translocation chromosome 5 possessed in all 4 nuclei a 200 nm long terminal region of condensed chromatin resembling the heterochromatin of the short arms of the acrocentric chromosomes. This together with the observation that the telomere of the short arm of translocation chromosome 5 was attached to the nuclear envelope permits the conclusion that the translocation is reciprocal with transfer of the telomere region from chromosome 22 to chromosome 5 and that of the latter to chromosome 22. Recombination nodules were more frequent in bivalent 5 than in the remainder of the genome whereas a similar increase in nodule frequency was not observed for bivalent 22.
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Holm, P.B., Rasmussen, S.W. Human meiosis III. Electron microscopical analysis of chromosome pairing in an individual with a balanced translocation 46, XY, t(5p−;22p+). Carlsberg Res. Commun. 43, 329–350 (1978). https://doi.org/10.1007/BF02906107
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DOI: https://doi.org/10.1007/BF02906107