| Popis: |
Both in men where the somatic karyotype is abnormal as well as in cases where it is normal, it is worth while studying meiosis in the male. The picture of meiosis has been studied in the main from testicular biopsies and also partly from spermatic line cells found in sperm. Studying the haploid portion of the male pronucleus using the hamster test reflects the process of meiosis. In this way it has been possible to individualise different pathological entities such as asynapsis or desynapsis, alterations in synaptic complexes, the presence of several nucleoli or micronucleoli in the pachytene stage, hyper or hypo polidies, the presence of univalents and the breakdown of bivalents, oligochiasmatasis, chain or ring pictures or early desynapsis of the sexual vesicle in the diacinesis and in the first metaphase stage. Aneuploidies have been found in the second metaphase stage or when carrying out chromosome analysis on the male pronucleus. The abnormalities in the number of chromosomes which are found with the formula 47,XXY, may be due to faults in spermatogenesis, but in the case of the double Y in 47,XYY the extra Y will rarely be found during meiotic divisions. The Robertsonian translocations causing abnormalities in structure are due to the formation of trivalents whereas reciprocal translocations give rise to the idea of quadrivalent pictures mainly associated with faults in spermatogenesis. Finally, autosomal chromosome translocations seem to have more severe meiotic repercussions, particularly in cases where the inactive autosomal X chromosome is involved. Even where a somatic karyotype is normal in a fertile subject that does not mean that there is no meiotic abnormality present, because 8-10% of the cells that were studied showed such an abnormality. |
