A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements

Abstract Background Complex genomic rearrangements (CGRs) consisting of interstitial triplications in conjunction with uniparental isodisomy (isoUPD) have rarely been reported in patients with multiple congenital anomalies (MCA)/intellectual disability (ID). One-ended DNA break repair coupled with m...

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Bibliographic Details
Main Authors: Tomohiro Kohmoto, Nana Okamoto, Takuya Naruto, Chie Murata, Yuya Ouchi, Naoko Fujita, Hidehito Inagaki, Shigeko Satomura, Nobuhiko Okamoto, Masako Saito, Kiyoshi Masuda, Hiroki Kurahashi, Issei Imoto
Format: Article
Language:English
Published: BMC 2017-04-01
Series:Molecular Cytogenetics
Subjects:
1q
Complex genomic rearrangement
Uniparental isodisomy
DUP-TRP/INV-DUP structure
Microhomology-mediated break-induced replication model
Template switching
Online Access:http://link.springer.com/article/10.1186/s13039-017-0316-6

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http://link.springer.com/article/10.1186/s13039-017-0316-6

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