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Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
Chromoanagenesis is a genomic event responsible for the formation of complex structural chromosomal rearrangements (CCRs). Germline chromoanagenesis is rare and the majority of reported cases are associated with an affected phenotype. Here, we report a healthy female carrying two de novo CCRs involv...
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| Publicado en: | Hum Genet |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8052244/ https://ncbi.nlm.nih.gov/pubmed/33315133 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02242-3 |
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