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Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy.

Detalles Bibliográficos
Autores principales: Beaudry, Sarah M., Shchelochkov, Oleg, Trapane, Pamela, Darbro, Benjamin, Nagy, Jaime M. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077311/
https://www.ncbi.nlm.nih.gov/pubmed/33936691
http://dx.doi.org/10.1002/ccr3.4031