A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome

The most prevalent microdeletion in the human population occurs at 22q11.2, a region rich in chromosome-specific low copy repeats (LCR22s). The structure of this region has eluded characterization due to a combination of size, regional complexity, and haplotype diversity. To further complicate matte...

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Detalles Bibliográficos
Autores principales: Pastor, Steven, Tran, Oanh, McGinn, Daniel E., Crowley, T. Blaine, Zackai, Elaine H., McDonald-McGinn, Donna M., Emanuel, Beverly S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498844/
https://www.ncbi.nlm.nih.gov/pubmed/36140835
http://dx.doi.org/10.3390/genes13091668

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498844/
https://www.ncbi.nlm.nih.gov/pubmed/36140835
http://dx.doi.org/10.3390/genes13091668

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