RT Journal Article
SR Electronic
T1 Two cases of coloboma associated with unbalanced translocations.
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 122
OP 123
DO 10.1136/bjo.77.2.122
VO 77
IS 2
A1 Goggin, M
A1 O'Keefe, M
A1 Hughes, H
YR 1993
UL http://bjo.bmj.com/content/77/2/122.abstract
AB Two cases of coloboma are recorded, both secondary to previously unreported unbalanced translocations. These cases underline the association of chromosomal abnormalities and coloboma, particularly when accompanied by systemic abnormalities. They also highlight the importance of a full systemic assessment of coloboma patients and adequate genetic counselling for both patients and their families.