Identification of a familial complex chromosomal rearrangement by optical genome mapping

BACKGROUND: Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as translocation, inversion and/or insertion. With the development of cytogenetic and molecular genetic techniques, some chromosomal rearrangements that were...

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Detalles Bibliográficos
Autores principales: Yang, Yang, Hao, Wang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490972/
https://www.ncbi.nlm.nih.gov/pubmed/36127686
http://dx.doi.org/10.1186/s13039-022-00619-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9490972/
https://www.ncbi.nlm.nih.gov/pubmed/36127686
http://dx.doi.org/10.1186/s13039-022-00619-9

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