A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisation

Andrologia. 2010 Feb;42(1):27-34. doi: 10.1111/j.1439-0272.2009.00951.x.

Abstract

In the infertile male population, there is a 2-20-time higher probability of having a structural chromosomal abnormality than in general population. Generally, these men have a normal phenotype but they can have sperm abnormalities. As they can produce a variable proportion of unbalanced gametes, it is important to evaluate the percentage of unbalanced chromosomal spermatozoa to assess the risk of injecting a chromosomally unbalanced gamete during ICSI procedure. We report here the meiotic segregation analysis of chromosomes in spermatozoa of 12 men with a balanced reciprocal translocation and 4 men with a Robertsonian translocation using a fluorescent in situ hybridisation analysis. The frequencies of normal or balanced spermatozoa ranged from 34.4% to 49.1% in balanced reciprocal translocation carriers. For Robertsonian translocation, the frequencies of normal or balanced spermatozoa ranged from 78.4% to 91.2%. These analyses allow us to define the orientation of genetic counselling according to the results of meiotic segregation obtained. As a last resort, it could then be discussed of the possibility of having recourse to donor spermatozoa or adoption.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Segregation*
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Infertility, Male / diagnosis*
  • Infertility, Male / genetics
  • Karyotyping
  • Male
  • Meiosis / genetics*
  • Spermatozoa / pathology*
  • Translocation, Genetic*