title: Ocular findings in partial trisomy 3q. A case report and review of the literature.
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.
authors.affiliation: Center for Sight, Georgetown University, Washington, DC.
authors.forename: G A
authors.initials: GA
authors.lastname: Chrousos
authors.forename: J F
authors.initials: JF
authors.lastname: O'Neill
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: A
authors.initials: A
authors.lastname: Richmond
authors.forename: K N
authors.initials: KN
authors.lastname: Rosenbaum
mesh_terms: D002893:Chromosomes, Human, Pair 3; D005128:Eye Diseases / Q000235:genetics*; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy