Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.

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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

Edité par HAL CCSD ; Elsevier

International audience. 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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