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

نویسندگان

  • Caroline Schluth-Bolard
  • Bruno Delobel
  • Damien Sanlaville
  • Odile Boute
  • Jean-Marie Cuisset
  • Sylvie Sukno
  • Audrey Labalme
  • Bénédicte Duban-Bedu
  • Ghislaine Plessis
  • Sylvie Jaillard
  • Christèle Dubourg
  • Catherine Henry
  • Josette Lucas
  • Sylvie Odent
  • Laurent Pasquier
  • Henri Copin
  • Philippe Latour
  • Marie-Pierre Cordier
  • Gwenaël Nadeau
  • Marianne Till
  • Patrick Edery
  • Joris Andrieux
چکیده

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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عنوان ژورنال:
  • European journal of medical genetics

دوره 52 5  شماره 

صفحات  -

تاریخ انتشار 2009