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
Descripción
Sumario: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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