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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Bibliographic Details
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
Subjects:
Case Report
Case Reports
Terminal 17q trisomy
unbalanced chromosomal translocation
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Summary: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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.1298