A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature. Issue 4 (14th February 2018)

• Record Type: Journal Article
• Authors: Upadia, Jariya; Philips, Joseph B.; Robin, Nathaniel H.; Lose, Edward J.; Mikhail, Fady M.
• Is Part Of: Clinical case reports. Volume 6:Issue 4(2018)
• Page Start: 612
• Page End: 616
• Publication Date: 2018-02-14
• Subjects: Terminal 17q trisomy -- unbalanced chromosomal translocation; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1298
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : 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.