Congenital ocular anomaly in an infant with trisomy 14 mosaicism
- Abstract
- 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.
- All Author(s)
- J. H. Choi
; Y. J. Choi
; S. Y. Kim
- Issued Date
- 2012
- Type
- Article
- Keyword
- Retinal dystrophies; Trisomy 14; Trisomy 14 mosaicism
- Publisher
- 대한안과학회
the Korean Ophthalmological Society
- ISSN
- 1011-8942
; 2092-9382
- Citation Title
- Korean Journal of Ophthalmology
- Citation Volume
- 26
- Citation Number
- 4
- Citation Start Page
- 316
- Citation End Page
- 318
- Language(ISO)
- eng
- DOI
- 10.3341/kjo.2012.26.4.316
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/2923
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