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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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Detaylı Bibliyografya
Yayımlandı:Clin Case Rep
Asıl Yazarlar: Beaudry, Sarah M., Shchelochkov, Oleg, Trapane, Pamela, Darbro, Benjamin, Nagy, Jaime M. W.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2021
Konular:
Online Erişim: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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