The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications-Reference-Cited by-同舟云学术

The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications

Published:2020-06-02 Issue:11 Volume:139 Page:1417-1427
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Kato Takema,Inagaki Hidehito,Miyai Syunsuke,Suzuki Fumihiko,Naru Yuki,Shinkai Yasuko,Kato Asuka,Kanyama Kazuo,Mizuno Seiji,Muramatsu Yukako,Yamamoto Toshiyuki,Shinya Mitsuhisa,Tazaki Yukiko,Hiwatashi Sayuri,Ikeda Toshiro,Ozaki Mamoru,Kurahashi Hiroki

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-020-02186-8.pdf

Reference23 articles.

1. Ballif BC, Yu W, Shaw CA et al (2003) Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet 12:2153–2165. https://doi.org/10.1093/hmg/ddg231

2. Bonaglia MC, Giorda R, Massagli A et al (2008) A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications. Eur J Hum Genet 17:179–186. https://doi.org/10.1038/ejhg.2008.160

3. Chabchoub E, Rodriguez L, Galan E et al (2007) Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation. J Med Genet 44:250–256. https://doi.org/10.1136/jmg.2006.045476

4. Fan X, Abbott TE, Larson D, Chen K (2014) BreakDancer: Identification of genomic structural variation from paired-end read mapping. Curr Protoc Bioinformatics 45:15.6.1–11. https://doi.org/10.1002/0471250953.bi1506s45

5. García-Santiago FA, Martínez-Glez V, Santos F et al (2015) Analysis of invdupdel(8p) rearrangement: clinical, cytogenetic and molecular characterization. Am J Med Genet 167A:1018–1025. https://doi.org/10.1002/ajmg.a.36879

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