Article
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
American journal of human genetics - 2 Apr 2015
de Pagter Mirjam S, van Roosmalen Markus J, Baas Annette F, Renkens Ivo, Duran Karen J, van Binsbergen Ellen, Tavakoli-Yaraki Masoumeh, Hochstenbach Ron, van der Veken Lars T, Cuppen Edwin, Kloosterman Wigard P
Abstract excerpt
Chromothripsis represents an extreme class of complex chromosome rearrangements (CCRs) with major effects on chromosomal architecture. Although recent studies have associated chromothripsis with congenital abnormalities, the incidence and pathogenic effects of this phenomenon require further investigation. Here, we analyzed the genomes of three families in which chromothripsis rearrangements were transmitted from...
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