Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Nature genetics - 2 Oct 2011
Carvalho Claudia M B, Ramocki Melissa B, Pehlivan Davut, Franco Luis M, Gonzaga-Jauregui Claudia, Fang Ping, McCall Alanna, Pivnick Eniko Karman, Hines-Dowell Stacy, Seaver Laurie H, Friehling Linda, Lee Sansan, Smith Rosemarie, Del Gaudio Daniela, Withers Marjorie, Liu Pengfei, Cheung Sau Wai, Belmont John W, Zoghbi Huda Y, Hastings P J, Lupski James R
Abstract excerpt
We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 11 unrelated subjects. Notably, only two breakpoint junctions were generated during each rearrangement formation. All the complex rearrangement products share a...
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