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Schluth-Bolard, Caroline; Delobel, Bruno; Sanlaville, Damien; Boute, Odile; Cuisset, Jean-Marie; Sukno, Sylvie; Labalme, Audrey; Duban-Bedu, Bénédicte; Plessis, Ghislaine; Jaillard, Sylvie; Dubourg, Christèle; Henry, Catherine; Lucas, Josette; Odent, Sylvie; Pasquier, Laurent; Copin, Henri; Latour, Philippe; Cordier, Marie-Pierre; Nadeau, Gwenaël; Till, Marianne; Edery, Patrick; Andrieux, Joris
European journal of medical genetics, 09/2009, Volume: 52, Issue: 5Journal Article
Abstract Investigations of apparently balanced chromosomal rearrangements in patients with abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a proportion of unsuspected imbalances. It was estimated recently that 40% of apparently balanced de novo translocations with abnormal phenotype were associated with cryptic deletion. We explored 47 unrelated mental retardation patients carrying an apparently balanced chromosomal rearrangement with high-resolution oligonucleotides arrays. We included 33 de novo cases (21 translocations, 7 inversions and 5 complex chromosomal rearrangements (CCR)) and 14 inherited cases (7 translocations, 5 inversions and 2 CCR). Twenty of the 47 cases (42.6%) carried a cryptic deletion ranging from 60 kb to 15.37 Mb. It concerned 16/33 de novo rearrangements (8/21 translocations, 4/7 inversions and 4/5 CCR) and 4/14 inherited rearrangements (1/7 translocations, 2/5 inversions and 1/2 CCR). The proportion of imbalances was not statistically different between de novo and inherited cases. Our results support that about 40% apparently balanced chromosomal rearrangements with abnormal phenotype are in fact imbalanced and that these rearrangements should be systematically investigated by array CGH independently of their de novo or inherited character.
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