Ocular anomalies in an unbalanced translocation between chromosomes 7 and 8.
A translocation between chromosomes 7 and 8 was found in several members of a family. We describe two family members with an unbalanced form of this translocation with the derivative of chromosome 7:der(7),t(7;8)(q34;q24.1). Both present multiple congenital systemic anomalies and ocular aberrations. Of those the coloboma of the optic disc is the most obvious. We discuss the pathology of the eyes of one of our patients.
D000015:Abnormalities, Multiple; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D003952:Diagnostic Imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic