XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation.
Synaptonemal complexes were analysed in 91 pachytenes from a patient carrier of a Robertsonian translocation 45XY, t(13;14). Electron microscopic studies were carried out in 36 pachytenes. In some cases, sequential light microscopy/electron microscopic images were obtained (16/36). As the resolution of the light microscope does not allow an accurate characterization of anomalies, only EM images have been taken into account. Association of the trivalent and the sex vesicle was detected in 8 of 36 pachytenes (22.2%). Synaptic anomalies (25%), fragmentation of synaptonemal complexes (11.1%) or both (2.8%) were seen in 14 of 36 nuclei. According to previous studies, synaptic anomalies may produce a spermatogenic arrest. However, it has been suggested that synaptic anomalies may be the result of a process of cell degeneration, and not its cause. The non-random relationship between the sex vesicle and the translocation trivalent may result from the tendency of unpaired segments to associate with each other after homology search is relaxed and heterologous synaptic adjustment is allowed.
Navarro
J
J
Departament de Biologia Cellular i Fisiologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Spain.
Vidal
F
F
Benet
J
J
Templado
C
C
Marina
S
S
Egozcue
J
J
D000328:Adult; D006579:Heterozygote; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013569:Synapses / Q000473:pathology*; D013573:Synaptonemal Complex / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome