Congenital Ocular Anomaly in an Infant with Trisomy 14 Mosaicism

• 발행기관: 대한안과학회
• 저자명: Jun Ho Choi Youn Joo Choi So Young Kim
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.26 No.4, 316~318쪽, 전체 3쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2012.08.30

영문 초록

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.

목차

Case Report

Discussion

Conflict of Interest

References

키워드

Retinal dystrophies Trisomy 14 Trisomy 14 mosaicism