Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expan...

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Detalles Bibliográficos
Autores principales: Choi, Jun Ho, Choi, Youn Joo, Kim, So Young
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Ophthalmological Society 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408541/
https://www.ncbi.nlm.nih.gov/pubmed/22870035
http://dx.doi.org/10.3341/kjo.2012.26.4.316
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author Choi, Jun Ho
Choi, Youn Joo
Kim, So Young
author_facet Choi, Jun Ho
Choi, Youn Joo
Kim, So Young
author_sort Choi, Jun Ho
collection PubMed
description Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity.
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spelling pubmed-34085412012-08-07 Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism Choi, Jun Ho Choi, Youn Joo Kim, So Young Korean J Ophthalmol Case Report Trisomy 14 mosaicism is a rare chromosomal abnormality with distinct and recognizable clinical features. We report a patient with presumed retinal dystrophy having diffuse retinal pigment epithelial abnormalities, which has not been previously reported in association with trisomy 14. This case expands the clinical spectrum of this rare entity. The Korean Ophthalmological Society 2012-08 2012-07-24 /pmc/articles/PMC3408541/ /pubmed/22870035 http://dx.doi.org/10.3341/kjo.2012.26.4.316 Text en © 2012 The Korean Ophthalmological Society http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Choi, Jun Ho
Choi, Youn Joo
Kim, So Young
Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
title Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
title_full Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
title_fullStr Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
title_full_unstemmed Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
title_short Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism
title_sort congenital ocular anomaly in an infant with trisomy 14 mosaicism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408541/
https://www.ncbi.nlm.nih.gov/pubmed/22870035
http://dx.doi.org/10.3341/kjo.2012.26.4.316
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