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

Jariya Upadia; Joseph B Philips 3rd; Nathaniel H Robin; Edward J Lose; Fady M Mikhail

doi:10.1002/ccr3.1298

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

Clin Case Rep. 2018 Feb 14;6(4):612-616. doi: 10.1002/ccr3.1298. eCollection 2018 Apr.

Authors

Jariya Upadia¹, Joseph B Philips 3rd², Nathaniel H Robin¹, Edward J Lose¹, Fady M Mikhail¹

Affiliations

¹ Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA.
² Department of Pediatrics University of Alabama at Birmingham Birmingham Alabama USA.

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.

Keywords: Terminal 17q trisomy; unbalanced chromosomal translocation.

Publication types

Case Reports