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

Academic Article


  • 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.
  • Published In


  • Terminal 17q trisomy, unbalanced chromosomal translocation
  • Digital Object Identifier (doi)

    Author List

  • Upadia J; Philips JB; Robin NH; Lose EJ; Mikhail FM
  • Start Page

  • 612
  • End Page

  • 616
  • Volume

  • 6
  • Issue

  • 4