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