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June 17, 2021

Fundus Pigmentary Whorls in a Patient With Mosaicism for Tetrasomy 3q

Author Affiliations
  • 1Ophthalmic Consultants of Boston, Boston, Massachusetts
  • 2New England Eye Center, Tufts Medical Center, Boston, Massachusetts
  • 3Pediatric Ophthalmology Service, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts
  • 4Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • 5Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, Pennsylvania
JAMA Ophthalmol. 2021;139(8):915-917. doi:10.1001/jamaophthalmol.2021.1954

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.

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