Anàlisi citogenètica d'espermatozoides humans

Chromosome abnormalities are one of the major causes of human infertility. In infertile
males, abnormal somatic karyotypes are more frequent than in the general population.
Furthermore, meiotic disorders affecting the germ-cell line have been observed in
men with normal somatic karyotypes consulting for infertility. In both cases, the production
of unbalanced spermatozoa has been described. Basically addressed to establish reproductive risks, fluorescence in situ hybridization (FISH) on decondensed sperm nuclei
has become the most frequently used method to study the chromosomal constitution of
spermatozoa. This paper reviews the information obtained through sperm FISH studies
in carriers of numerical sex chromosome anomalies, carriers of structural chromosome reorganizations
and infertile males with normal karyotypes emphasizing on its clinical significance.