Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders

BACKGROUND: Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable phenotype depending on the tissue distribution and level of mosaicism. Mosaici...

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Detalles Bibliográficos
Autores principales: Hu, Xiaolin, Baker, Elizabeth K., Johnson, Jodie, Balow, Stephanie, Pena, Loren D. M., Conlin, Laura K., Guan, Qiaoning, Smolarek, Teresa A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898488/
https://www.ncbi.nlm.nih.gov/pubmed/35248119
http://dx.doi.org/10.1186/s13039-022-00579-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8898488/
https://www.ncbi.nlm.nih.gov/pubmed/35248119
http://dx.doi.org/10.1186/s13039-022-00579-0

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