Tetrasomy of chromosome 3q is a genetic condition in which there are 4 copies of the long arm of chromosome 3. In pure tetrasomy, all cell lines in the body are affected; however, in the mosaic form of the syndrome, a result of a nondisjunction event, tetrasomy exists in some tissues but not others, resulting in a patchy phenotypic manifestation. Tetrasomy of chromosome 3q has been reported to manifest with skin pigmentary abnormalities, skeletal abnormalities, and neurodevelopmental anomalies,1-3 but, to our knowledge, few details of ophthalmic manifestations have been reported. We describe posterior segment findings in mosaicism of tetrasomy of chromosome 3q.
Jeng-Miller KW, Alkharashi M, Fulton A, Yonekawa Y. Fundus Pigmentary Whorls in a Patient With Mosaicism for Tetrasomy 3q. JAMA Ophthalmol. 2021;139(8):915–917. doi:10.1001/jamaophthalmol.2021.1954
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