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

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 microhomo...

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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Kohmoto, Tomohiro, Okamoto, Nana, Naruto, Takuya, Murata, Chie, Ouchi, Yuya, Fujita, Naoko, Inagaki, Hidehito, Satomura, Shigeko, Okamoto, Nobuhiko, Saito, Masako, Masuda, Kiyoshi, Kurahashi, Hiroki, Imoto, Issei
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2017
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5410019/
https://ncbi.nlm.nih.gov/pubmed/28465723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-017-0316-6
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