Human sperm aneuploidy: FISH analysis in fertile and infertile men

Laura Gambera, Giuseppe Morgante, Francesca Serafini, Anita Stendardi, Raoul Orvieto, Vincenzo De Leo, Felice Petraglia, Paola Piomboni

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


In this article we aim to summarize the data regarding the incidence of sperm aneuploidy detected by FISH in fertile and infertile men with and without normal karyotype. We analyze and discuss studies relating to FISH analysis in sperm from fertile and infertile men that were published until October 2010. Among the control men, the lowest aneuploidy rate (range: 0.09-0.13% for autosomes; 0.04-0.10% for gonosomes) was detected in the normozoospermic and fertile group. In infertile patients with a normal karyotype, the severity of semen alterations was correlated with the frequency of aneuploidy, particularly of gonosomes. Among patients with abnormal karyotype, the 47,XXY and 47,XYY carriers showed high variability of sperm aneuploidy of gonosomes, while carriers of Robertsonian translocation demonstrated an increased aneuploidy rate, which was mainly related to interchromosomal effect. The reciprocal translocation carriers showed a high percentage of imbalanced spermatozoa (≥50%) and interchromosomal effects were possibly observed. The study of sperm chromosomal constitution is a useful tool that obtains information on the effects of andrological and/or systemic diseases on the chromosomal segregation process, which may aid both fertility specialist counseling and their patients in the decision-making process before offering assisted fertilization techniques for the treatment of male factor infertility.

Original languageEnglish
Pages (from-to)609-627
Number of pages19
JournalExpert Review of Obstetrics and Gynecology
Issue number6
StatePublished - 1 Nov 2011


  • FISH
  • abnormal karyotype
  • male fertility
  • male infertility
  • sperm aneuploidy
  • translocation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Reproductive Medicine
  • Obstetrics and Gynecology
  • Maternity and Midwifery


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