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Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation

โœ Scribed by M. R. Guichaoua; B. Quack; R. M. Speed; B. Noel; A. C. Chandley; J. M. Luciani


Publisher
Springer
Year
1990
Tongue
English
Weight
938 KB
Volume
86
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


Pachytene analysis was undertaken in a male patient heterozygous for a 14q22q Robertsonian translocation. The relatively low rate of XY autosome association led us to examine the relationships existing between the chromosomes involved in the translocation, the rate of XY-autosome association and the degree of spermatogenic failure. Cytogenetic investigations in infertile men and the results of the meiotic studies suggest a direct correlation between the frequency of XY-autosome association at pachytene and the degree of spermatogenic failure. Whether associations arise as a consequence or cause of germ cell failure is still not certain. interaction, as originally proposed by Forejt (1974) for the mouse, and later suggested by Chandley (1979) to explain human spermatogenic impairment. Each mechanism may in itself be sufficient to cause gametogenic failure, but the two could also interact, partial asynapsis between the normal and translocated chromosomes favouring attraction between the translocation figure and the differential segment of the X chromosome (Rosenmann et al. 1985). In this paper, we will discuss the respective role of each mechanism in relation to the spermatogenic failure seen in an infertile male heterozygous for a 14;22 Robertsonian translocation.


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