Two cases of coloboma associated with unbalanced translocations.
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.
Goggin
M
M
Department of Paediatric Ophthalmology, Children's Hospital, Dublin, Republic of Ireland.
O'Keefe
M
M
Hughes
H
H
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D002895:Chromosomes, Human, Pair 5; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D014178:Translocation, Genetic / Q000235:genetics*