Ocular findings in partial trisomy 3q: A case report and review of the literature
- 1 January 1988
- journal article
- case report
- Published by Taylor & Francis in Ophthalmic Paediatrics and Genetics
- Vol. 9 (2) , 127-130
- https://doi.org/10.3109/13816818809031486
Abstract
The authors report the ocular findings in a patient with partial trisomy 3 [46, XY-15, der(15), t(3;15) (q26;128) mat] and review the literature on this chromosomal anomaly. The patient's main ocular finding was infantile glaucoma. The patient's mother was phenotypically normal and carried a balanced chromosome translocation. Awareness of the ocular abnormalities associated with partial trisomy syndromes is essential since more children with these syndromes survive today than in the past.Keywords
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