Within a group of 207 subfertile men, selected for testicular biopsy, histological investigations were made successfully in 194 chromosomally normal and 7 chromosomally abnormal individuals. Fifty-two per cent of men with a normal karyotype showed normal testicular histology, 31% showed a general depression of spermatogenesis and 8% showed deficiency in the late stages. Ten per cent had only Sertoli cells in the testis. The range of testicular conditions seen in the chromosomally abnormal men was similar to that found in the chromosomally normal. Meiotic studies carried out on 118 chromosomally normal individuals gave a mean chiasma count of 48-9 per cell. There was a positive correlation between high numbers of cells at diakinesis/metaphase I showing X and Y univalents and low numbers of cells reaching metaphase II. Meiosis was studied in 3 translocation heterozygotes, one 47, XYY male, one 47, XY+mar individual and one patient with a ring Y chromosome.

A method is described for the silver staining of the synaptonemal complex in surface-spread mammalian spermatocytes for light microscope examination. The method is quick, reliable, of broad applicability, and provides a means of making karyotype analysis at meiotic prophase. Many hundreds of suitable cells can be examined in an average preparation in a relatively short space of time. It has so far been applied only to mammalian spermatocytes, but could be used for karyotype analysis in oocytes of mammals and also applied to gonocytes of non-mammalian species.

Details of meiotic chromosome studies in four human male translocation heterozygotes are given. All are associated with subfertility. One Robertsonian translocation and one reciprocal autosome translocation appear to be associated with increased levels of abortion. Segregation of unbalanced gametic genomes is thought to be the underlying cause of fetal death. Two other reciprocal autosome translocations are associated with gametogenic failure, leading to azospermia in male heterozygotes.

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