title: Negligible interchromosomal effect in embryos of Robertsonian translocation carriers.
abstract: It has been suggested that translocations, and perhaps other chromosome rearrangements, disturb meiotic disjunction of chromosome pairs not involved in the translocation, resulting in non-disjunction in those chromosomes (interchromosomal effect) and predisposition to trisomy offspring. Other reports have suggested an increased risk of mosaicism and chaotic embryos in translocation carriers. This study was designed to determine if such interchromosomal effects are producing significantly more chromosome abnormalities than those expected from unbalanced gametes. For that purpose, two groups of PGD patients were compared, Robertsonian translocation carriers (RBT) and carriers of X-linked diseases (XLI), of similar age. Both groups were analysed by FISH with similar DNA probes. The results indicate that overall, the higher rate of chromosome abnormalities in the RBT group was solely due to unbalanced gametes and not to an interchromosomal effect or higher incidence of mosaicism. If unbalanced and normal were combined, this proportion was 53% in XLI and 59% in RBT. However, when specific RBT translocations were studied, only a slight increase in embryos with aneuploidy for chromosome 22 was found for the t(13;14) translocation carriers, while a higher rate of post-zygotic abnormalities was observed in the more rare RBT. In conclusion, the overall rate of non-translocation related abnormalities was not increased in the RBT group compared with the control group, but a slight interchromosomal effect may exist, as some Robertsonian translocations may be more prone to produce mosaic and chaotic embryos.
authors.affiliation: Reprogenetics, LLC, West Orange, NJ, USA. munne@embryos.net
authors.forename: Santiago
authors.initials: S
authors.lastname: Munné
authors.forename: Tomas
authors.initials: T
authors.lastname: Escudero
authors.forename: Jill
authors.initials: J
authors.lastname: Fischer
authors.forename: Serena
authors.initials: S
authors.lastname: Chen
authors.forename: Joseph
authors.initials: J
authors.lastname: Hill
authors.forename: James R
authors.initials: JR
authors.lastname: Stelling
authors.forename: Anna
authors.initials: A
authors.lastname: Estop
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002869:Chromosome Aberrations; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D012189:Retrospective Studies; D014178:Translocation, Genetic