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A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

Terminal 17q trisomy is very rare but a recognizable genetic syndrome. The majority of cases reported are inherited from a balanced translocation carrier. This syndrome involves many organs and the severity ranges from mild to severe depending on the size of the 17q gain.

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Detalhes bibliográficos
Publicado no:Clin Case Rep
Main Authors: Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5889218/
https://ncbi.nlm.nih.gov/pubmed/29636925
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1298
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