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

Key Clinical Message 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. Termin...

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Published in:Clinical case reports 2018-04, Vol.6 (4), p.612-616
Main Authors: Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.
Format: Article
Language:English
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Case Report
Case Reports
Terminal 17q trisomy
unbalanced chromosomal translocation
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creator Upadia, Jariya
Philips, Joseph B.
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Lose, Edward J.
Mikhail, Fady M.
description Key Clinical Message 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. 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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subjects Case Report
Case Reports
Terminal 17q trisomy
unbalanced chromosomal translocation
title A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
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