Chromosome Abnormalities and Gamete Production in Man

  • Marco Fraccaro


The averaged incidence of chromosome abnormalities from samples of infertile males has been estimated to be approximately 5%, of which 4% are sex chromosome abnormalities and 1% autosomal abnormalities. Variations in the frequencies among different samples are probably due to ascertainment bias. The autosomal abnormalities consist mainly of balanced translocations which are found with a frequency of nine per thousand. Most translocations are Robertsonian ones and most of them are familial. The reasons why a balanced translocation interferes with the normal meiotic process are discussed. The effects on female fertility of numerical and structural aberrations of the X chromosome are discussed with special attention to the deficiencies of the short and long arm of the X chromosome. Several of these deficiencies are secondary to X/autosome translocations transmitted by the mother of the probands. It is concluded that the function of the abnormal X chromosome rather than the loss of specific segments is probably correlated with the lack of gamete production.


Chromosome Abnormality Turner Syndrome Infertile Male Female Fertility Robertsonian Translocation 
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Copyright information

© Springer-Verlag Berlin Heidelberg 1983

Authors and Affiliations

  • Marco Fraccaro
    • 1
  1. 1.Istituto di Biologia Generale e Genetica MedicaUniversità di PaviaPaviaItaly

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