title: A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisation.
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.
authors.affiliation: Université de Bretagne Occidentale, Brest, France.
authors.forename: A
authors.initials: A
authors.lastname: Perrin
authors.forename: F
authors.initials: F
authors.lastname: Morel
authors.forename: N
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: M-J
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: J
authors.initials: J
authors.lastname: Amice
authors.forename: V
authors.initials: V
authors.lastname: Amice
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D020090:Chromosome Segregation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013094:Spermatozoa / Q000473:pathology*; D014178:Translocation, Genetic