Clinical significance and mechanisms associated with segmental UPD

Clinical significance and mechanisms associated with segmental UPD

Abstract Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear. In a 10-year period of confirming (> 300) cases of whole chromosome UPD, we identified 86 segmental cases in bot...

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Bibliographic Details
Main Authors: Peter R. Papenhausen, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz, Andrea Penton
Format: Article
Language:English
Published: BMC 2021-07-01
Series:Molecular Cytogenetics
Subjects:
Uniparental disomy
Segmental uniparental disomy
Mitotic correction
Chromosome microarray (CMA)
Cytogenetics
Homologous recombination
Online Access:https://doi.org/10.1186/s13039-021-00555-0

Internet

https://doi.org/10.1186/s13039-021-00555-0

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