Open AccessA case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
Author(s) -
Upadia Jariya,
Philips Joseph B.,
Robin Nathaniel H.,
Lose Edward J.,
Mikhail Fady M.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1298
Subject(s) - chromosomal translocation , trisomy , medicine , presentation (obstetrics) , chromosome , karyotype , genetics , bioinformatics , pediatrics , gene , biology , surgery
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.