Summary
Sperm and lymphocyte chromosome studies in a normal, fertile male have shown a high degree of coincidence between chromosome lesions and fragile sites in both types of cells. In this donor we also found that some fragile sites expressed in sperm chromosomes coincided with those expressed in lymphocyte chromosomes. These results indicate that the chromosome lesions expressed in sperm do not occur at random and that they are not technical artifacts. The fragility expression in sperm chromosomes could reflect in vivo conditions. The presence in some sperm metaphases of acentric fragments suggests that chromosome fragility can result in the loss of chromosome fragments or give rise to de novo structural rearrangements. However, the incidence of sperm with chromosomal abnormalities observed in this man was within the normal range.
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Benet, J., Fuster, C., Genescà, A. et al. Expression of fragile sites in human sperm and lymphocyte chromosomes. Hum Genet 81, 239–242 (1989). https://doi.org/10.1007/BF00278996
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DOI: https://doi.org/10.1007/BF00278996