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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.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Beaudry, Sarah M., Shchelochkov, Oleg, Trapane, Pamela, Darbro, Benjamin, Nagy, Jaime M. W.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077311/
https://ncbi.nlm.nih.gov/pubmed/33936691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.4031
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