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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.
AuthorsJun Ho Choi, Youn Joo Choi, So Young Kim
JournalKorean journal of ophthalmology : KJO (Korean J Ophthalmol) Vol. 26 Issue 4 Pg. 316-8 (Aug 2012) ISSN: 2092-9382 [Electronic] Korea (South)
PMID22870035 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Chromosomes, Human, Pair 14
  • Female
  • Humans
  • Infant, Newborn
  • Mosaicism
  • Retinal Diseases (congenital, genetics)
  • Trisomy

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