title: Meiotic segregation in spermatozoa of a 45,XY,-14,der(18)t(14;18)(q11;p11.3) translocation carrier: a case report.
abstract: A 35-year-old male was found to have a 45,XY,-14,der(18)t(14;18)(q11;p11.3) karyotype during the investigations for a couple with infertility for 8 years. Two sperm samples were obtained and analysed in triple fluorescence in situ hybridization (FISH) with the D18Z1 and LSI IGH/BCL2 probes. The frequency of gametes exhibiting a normal or balanced chromosomal equipment was 87.26 and 90.97% in samples 1 and 2, respectively. No statistically significant difference was found between the results of meiotic segregation of both samples. These proportions are close to those observed among Robertsonian translocation carriers. They can probably be explained by the formation of trivalent in cis configuration during meiosis I between the derivative chromosome and the normal chromosomes 14 and 18, as in Robertsonian translocation carriers. These results suggest that the configuration adopted at pachytene strongly determines the segregation mode that will be preferentially followed during anaphase I.
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, F-29238 Brest Cedex 3, France.
authors.forename: A
authors.initials: A
authors.lastname: Perrin
authors.forename: N
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: B
authors.initials: B
authors.lastname: Laudier
authors.forename: M L
authors.initials: ML
authors.lastname: Couet
authors.forename: F
authors.initials: F
authors.lastname: Guérif
authors.forename: D
authors.initials: D
authors.lastname: Royère
authors.forename: M J
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
authors.forename: F
authors.initials: F
authors.lastname: Morel
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D020090:Chromosome Segregation / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics*; D014178:Translocation, Genetic