title: 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.
authors.affiliation: Department of Ophthalmology, Soonchunhyang University College of Medicine, Seoul, Korea.
authors.forename: Jun Ho
authors.initials: JH
authors.lastname: Choi
authors.forename: Youn Joo
authors.initials: YJ
authors.lastname: Choi
authors.forename: So Young
authors.initials: SY
authors.lastname: Kim
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002883:Chromosomes, Human, Pair 14; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D012164:Retinal Diseases / Q000151:congenital* / Q000235:genetics; D014314:Trisomy