FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling.
Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal 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 demonstrated. Basically addressed to establish reproductive risks, fluorescence in situ hybridization (FISH) on decondensed sperm heads has become the most frequently used method to evaluate the chromosomal constitution of spermatozoa in carriers of numerical sex chromosome abnormalities, carriers of structural chromosome reorganizations and infertile males with normal karyotype. The aim of this review is to present updated figures of the information obtained through sperm FISH studies with an emphasis on its clinical significance. Furthermore, the incorporation of novel FISH-based techniques (Multiplex-FISH; Multi-FISH) in male infertility studies is also discussed.
Sarrate
Zaida
Z
Cell Biology Unit, Department of Cell Biology, Physiology and Immunology, Science Faculty, Autonomous University of Barcelona, Bellaterra 08193, Spain.
Blanco
Joan
J
Anton
Ester
E
Egozcue
Susana
S
Egozcue
Josep
J
Vidal
Francesca
F
D002869:Chromosome Aberrations; D003376:Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D008297:Male; D012098:Reproduction; D013094:Spermatozoa / Q000648:ultrastructure*