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We hypothesized that the presence of an extra copy of one chromosome alters the <jats:styled-content style=\"fixed-case\">CT<\/jats:styled-content> distribution, which perturbs transcriptional activity. We used <jats:styled-content style=\"fixed-case\">3D\u2010FISH<\/jats:styled-content> to study the position of the chromosomes of interest (18 and 21) in cultured amniocytes and chorionic villus cells from pregnancies with a normal or aneuploid karyotype. We studied the volumes of nuclei and <jats:styled-content style=\"fixed-case\">CTs<\/jats:styled-content> in both conditions and performed a compared transcriptome analysis. We did not observe any differences between euploid and aneuploid cells in terms of the radial and relative <jats:styled-content style=\"fixed-case\">CT<\/jats:styled-content> positions, suggesting that the same rules govern nuclear organization in cases of trisomy. We observed lower volumes for <jats:styled-content style=\"fixed-case\">CTs<\/jats:styled-content> 18 and 21. Overall genome expression profiles highlighted changes in the expression of a subset of genes in trisomic chromosomes, while the majority of transcriptional changes concerned genes located on euploid chromosomes. Our results suggest that a dosage imbalance of the genes on trisomic chromosomes is associated with a disturbance of overall genomic expression.<\/jats:p>","DOI":"10.1111\/cge.12731","type":"journal-article","created":{"date-parts":[[2016,1,11]],"date-time":"2016-01-11T15:14:41Z","timestamp":1452525281000},"page":"35-48","source":"Crossref","is-referenced-by-count":16,"title":["Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression"],"prefix":"10.1111","volume":"90","author":[{"given":"B.","family":"Herv\u00e9","sequence":"first","affiliation":[{"name":"UFR des Sciences de la Sant\u00e9 Simone Veil GIG, EA7404  Montigny le Bretonneux France"},{"name":"G\u00e9nomique, Epig\u00e9n\u00e9tique et Physiopathologie de la Reproduction, U1016 INSERM\u2010UMR 8104 CNRS Institut Cochin, Universit\u00e9 Paris Descartes  Paris France"},{"name":"Service de Cytog\u00e9n\u00e9tique APHP \u2013 H\u00f4pital Cochin  Paris France"},{"name":"Service de 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