title: Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier.
abstract: A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control donors using three-colour fluorescence in situ hybridisation (FISH). The theoretical viability of the different segregation patterns was performed using the computer system HC Forum developed by the Department of Cytogenetics at the Grenoble University Medical School, La Tronche, France. A normal or balanced constitution was found in 56.25% of the analysed spermatozoa. The tertiary 3:1 segregation mode was the most frequently observed (14.37%). The frequencies of adjacent-1, adjacent-2 and 3:1 interchange modes were 12.85, 9.38 and 7.14% respectively. The cumulative frequency of non-viable imbalance was estimated at 20.91% according to the theorical viability of the different segregation patterns. Spermatozoa aneuploidy frequency was also evaluated for chromosomes X, Y and 18, and there was no evidence of interchromosomal effect in spermatozoa from the translocation carrier. FISH analysis of spermatozoa in combination with the viability theorical estimation of the different segregation patterns could be considered a useful tool for genetic counselling in carriers of reciprocal translocation.
authors.affiliation: Reproductive Biology Laboratory, Rouen University Hospital, 1 rue de Germont, 76031, Rouen cedex, France. nathalie.rives@chu-rouen.fr.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Rives
authors.affiliation: Reproductive Biology Laboratory, Rouen University Hospital, 1 rue de Germont, 76031, Rouen cedex, France.
authors.forename: Marion
authors.initials: M
authors.lastname: Jarnot
authors.affiliation: Reproductive Biology Laboratory, Rouen University Hospital, 1 rue de Germont, 76031, Rouen cedex, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Mousset-Siméon
authors.affiliation: Reproductive Biology Laboratory, Rouen University Hospital, 1 rue de Germont, 76031, Rouen cedex, France.
authors.forename: Géraldine
authors.initials: G
authors.lastname: Joly
authors.affiliation: Reproductive Biology Laboratory, Rouen University Hospital, 1 rue de Germont, 76031, Rouen cedex, France.
authors.forename: Bertrand
authors.initials: B
authors.lastname: Macé
mesh_terms: D000328:Adult; D020090:Chromosome Segregation; D002879:Chromosomes, Human, Pair 10; D002899:Chromosomes, Human, Pair 9; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic