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.
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Authors | Jun Ho Choi, Youn Joo Choi, So Young Kim |
Journal | Korean journal of ophthalmology : KJO
(Korean J Ophthalmol)
Vol. 26
Issue 4
Pg. 316-8
(Aug 2012)
ISSN: 2092-9382 [Electronic] Korea (South) |
PMID | 22870035
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(genetics)
- Chromosomes, Human, Pair 14
- Female
- Humans
- Infant, Newborn
- Mosaicism
- Retinal Diseases
(congenital, genetics)
- Trisomy
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