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- W1971636535 abstract "Balanced chromosomal rearrangements represent a relatively common form of genetic abnormality affecting 0.19% of newborns. Several studies have suggested that the presence of such rearrangements might interfere with normal chromosome segregation, increasing the chance of additional chromosome abnormalities occurring, known as an interchromosomal effect (ICE). This study aimed to investigate whether this phenomenon truly exists. Comprehensive cytogenetic evaluation of oocytes/embryos from carriers of chromosome rearrangements. 28 patients undergoing PGD for a wide variety of different chromosome rearrangements participated, with all chromosomes screened using microarray CGH (aCGH). Results were obtained for 180 samples, from patients with chromosome rearrangements (>7000 chromosome segregations assessed). A robust control group was created for each patient by careful matching with multiple individuals of normal karyotype and identical age, undergoing routine preimplantation genetic screening (PGS) using aCGH. The control group consisted of 3309 samples (analysis of >134000 chromosomes). Overall, no evidence of ICE was observed. Subdivision of samples by class of rearrangement confirmed no ICE for Robertsonian or reciprocal translocations. However, a significant (P=0.04) increase in aneuploidy was observed associated with chromosome inversions. Much evidence for and against the existence of an ICE has been presented, but controversy continues due to a lack of a definitive study. The investigation reported here offers the best chance of detecting an ICE if one exists, since the analysis was not limited to a small number of chromosomes as has been the case for all previous studies. Detailed analysis was unable to detect any elevated risk of chromosome malsegregation for carriers of Robertsonian or reciprocal translocations, conclusively demonstrating that no ICE exists for such patients. However, it remains possible that an ICE might exist in case of inversions." @default.
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- W1971636535 date "2011-09-01" @default.
- W1971636535 modified "2023-09-26" @default.
- W1971636535 title "Are patients undergoing PGD for chromosome rearrangements at increased risk of aneuploidy affecting chromosomes unrelated to their rearrangement (Interchromosomal effect)?" @default.
- W1971636535 doi "https://doi.org/10.1016/j.fertnstert.2011.07.109" @default.
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