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Published on: January 12, 2022
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism
Mehryar Taban1, Andreas Marcotty, Elias I Traboulsi
1Department of Pediatric Ophthalmology and The Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Abstract:
Constitutional partial trisomy 8 mosaicism is a rare chromosomal multisystem disorder with systemic and ophthalmologic manifestations. We report the case of a 15-year-old female mosaic for trisomy 8 who has unilateral colobomatous microphthalmia and multiple chorioretinal defects. These congenital anomalies have not been previously reported in association with constitutional partial trisomy 8 mosaicism.
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