Clinical consequences of chromothripsis and other catastrophic cellular events

Maki Fukami, Hiroki Kurahashi

研究成果: Chapter

7 被引用数 (Scopus)

抄録

Chromothripsis was initially described as a novel cause of chromosomal rearrangements in cancer cells and was subsequently implicated in the development of gross chromosomal rearrangements in the germline. Other catastrophic cellular events such as chromoanasynthesis and chromoplexy have also been observed in human cells. Such events have been associated with various phenotypes including mental retardation and congenital malformations. Here, we introduce representative cases of human disorders arising from somatic or germline chromothripsis or similar catastrophic events. In this chapter, we use the term “chromoanagenesis” to indicate all catastrophic events including chromothripsis.

本文言語English
ホスト出版物のタイトルMethods in Molecular Biology
出版社Humana Press Inc.
ページ21-33
ページ数13
DOI
出版ステータスPublished - 01-01-2018

出版物シリーズ

名前Methods in Molecular Biology
1769
ISSN(印刷版)1064-3745

All Science Journal Classification (ASJC) codes

  • 分子生物学
  • 遺伝学

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