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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Bibliographic Details
Published in:Clinical case reports 2018, Vol.6 (4), p.612-616
Main Authors: Upadia, Jariya, Philips, Joseph B, Robin, Nathaniel H, Lose, Edward J, Mikhail, Fady M
Format: Report
Language:English
Online Access:Get full text
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Description
Summary: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1298