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

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.

Detalles Bibliográficos
Autores principales: Upadia, Jariya, Philips, Joseph B., Robin, Nathaniel H., Lose, Edward J., Mikhail, Fady M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889218/
https://www.ncbi.nlm.nih.gov/pubmed/29636925
http://dx.doi.org/10.1002/ccr3.1298
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author Upadia, Jariya
Philips, Joseph B.
Robin, Nathaniel H.
Lose, Edward J.
Mikhail, Fady M.
author_facet Upadia, Jariya
Philips, Joseph B.
Robin, Nathaniel H.
Lose, Edward J.
Mikhail, Fady M.
author_sort Upadia, Jariya
collection PubMed
description 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.
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spelling pubmed-58892182018-04-10 A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature Upadia, Jariya Philips, Joseph B. Robin, Nathaniel H. Lose, Edward J. Mikhail, Fady M. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-02-14 /pmc/articles/PMC5889218/ /pubmed/29636925 http://dx.doi.org/10.1002/ccr3.1298 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Upadia, Jariya
Philips, Joseph B.
Robin, Nathaniel H.
Lose, Edward J.
Mikhail, Fady M.
A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
title A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
title_full A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
title_fullStr A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
title_full_unstemmed A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
title_short A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
title_sort case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889218/
https://www.ncbi.nlm.nih.gov/pubmed/29636925
http://dx.doi.org/10.1002/ccr3.1298
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