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...

Descripción completa

Detalles Bibliográficos
Autores principales: Eisfeldt, Jesper, Pettersson, Maria, Petri, Anna, Nilsson, Daniel, Feuk, Lars, Lindstrand, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8052244/
https://www.ncbi.nlm.nih.gov/pubmed/33315133
http://dx.doi.org/10.1007/s00439-020-02242-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8052244/
https://www.ncbi.nlm.nih.gov/pubmed/33315133
http://dx.doi.org/10.1007/s00439-020-02242-3

Ejemplares similares