title: Sperm FISH analysis of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat complex chromosome rearrangement.
abstract: Complex chromosome rearrangements (CCR) with two independent chromosome rearrangements are rare. Although CCRs lead to high unbalanced gamete rates, data on meiotic segregation in this context are scarce. A male patient was referred to our clinic as part of a family screening programme prompted by the observation of a 44,X,der(Y),t(Y;15)(q12;q10)pat,rob(13;14)(q10;q10)mat karyotype in his brother. Karyotyping identified the same CCR. Sperm FISH (with locus-specific probes for the segments involved in the translocations and nine chromosomes not involved in both rearrangements) was used to investigate the rearrangements meiotic segregation products and establish whether or not an inter-chromosomal effect was present. Sperm nuclear DNA fragmentation was also evaluated. For rob(13;14) and der(Y), the proportions of unbalanced products were, respectively, 26.4% and 60.6%. Overall, 70.3% of the meiotic segregation products were unbalanced. No evidence of an inter-chromosomal effect was found, and the sperm nuclear DNA fragmentation rate was similar to our laboratory's normal cut-off value. In view of previously published sperm FISH analyses of Robertsonian translocations (and even though the mechanism is still unknown), we hypothesise that cosegregation of der(Y) and rob(13;14) could modify rob(13;14) meiotic segregation.
authors.affiliation: Department of Reproductive Biology, Cytogenetics, Gynecology and Obstetrics, Poissy Saint Germain Hospital, Poissy, France; EA 2493, University of Versailles Saint-Quentin-en-Yvelines, Versailles, France.
authors.forename: F
authors.initials: F
authors.lastname: Ferfouri
authors.forename: F
authors.initials: F
authors.lastname: Boitrelle
authors.forename: P
authors.initials: P
authors.lastname: Clement
authors.forename: D
authors.initials: D
authors.lastname: Molina Gomes
authors.forename: J
authors.initials: J
authors.lastname: Selva
authors.forename: F
authors.initials: F
authors.lastname: Vialard
mesh_terms: D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020287:In Situ Nick-End Labeling; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics; D010375:Pedigree; D013094:Spermatozoa / Q000378:metabolism*; D014178:Translocation, Genetic
keywords: Complex chromosome rearrangement; inter-chromosomal effect; sperm FISH; sperm nuclear DNA fragmentation