FISH studies of chromosome abnormalities in germ cells and its relevance in reproductive counseling

Z. Sarrate, J. Blanco, E. Anton, S. Egozcue, J. Egozcue, F. Vidal

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35 Citations (Scopus)


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. © 2005, Asian Journal of Andrology, Shanghai Institute of Materia Medica, Chinese Academy of Sciences. All rights reserved.
Original languageEnglish
Pages (from-to)227-236
JournalAsian Journal of Andrology
Issue number3
Publication statusPublished - 1 Sept 2005


  • Chromosome abnormalities
  • FISH
  • Germ cells
  • Male infertility
  • Reproductive counseling


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