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Article

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.

Journal of human genetics - 1 Aug 2020

Lei Ming, Liang Desheng, Yang Yifeng, Mitsuhashi Satomi, Katoh Kazutaka, Miyake Noriko, Frith Martin C, Wu Lingqian, Matsumoto Naomichi

Abstract excerpt

Chromothripsis is a type of chaotic complex genomic rearrangement caused by a single event of chromosomal shattering and repair processes. Chromothripsis is known to cause rare congenital diseases when it occurs in germline cells, however, current genome analysis technologies have difficulty in detecting and deciphering chromothripsis. It is possible that this type of complex rearrangement may be overlooked in...

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PMID: 32296131
DOI: 10.1038/s10038-020-0754-6
PMCID: PMC7324355

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