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JL Poulsen, G Wirth, R Savarirayan, JE Craig, DA Mackey; Duane syndrome associated with Mosaic Trisomy 8 . Invest. Ophthalmol. Vis. Sci. 2002;43(13):1466.
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Purpose: To evaluate the association of Mosaic Trisomy 8 with Duane syndrome. Several autosomal dominant pedigrees have been described and a gene located to chromosome 8q13. Mosaic Trisomy 8 is a rare chromosomal abnormality which has been associated with strabismus and more recently one case with Duane syndrome has been described. Methods: We evaluated the presence of Duane syndrome in our series of cases of Mosaic Trisomy 8. 24 cases with Mosaic Trisomy 8 were identified on the database of Genetic Health Services Victoria at the Royal Children's Hospital, Melbourne. This database extends over 15 years. Our patient population covers over 80,000 new births per year in South Eastern Australia. Results: One case of Mosaic Trisomy 8 with Duane syndrome and one case of Trisomy 8 with mild congenital cataracts and congenital esotropia (without limited abduction or palpebral narrowing on adduction) were identified. Conclusion: This supports the association of Mosaic Trisomy 8 with both Duane syndrome and esotropia and suggests that the gene located at 8q13 may act by a gene dosage mechanism.
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