De novo balanced translocation t [6;18] [q16;q23] in a female with bilateral aniridia

ABSTRACT

A 2.5-year-old female with some dysmorphic features and bilateral aniridia was found to have de nove balanced translocation t[6;18] [q 16; q23] and normal 11p13. Fluorescence in situ hybridization using whole chromosome painting for chromosome 6 confirmed the translocation. DNA sequencing of exon 10 of PAX6 gene at aniridia [AN] locus showed no mutation. In this patient, the presence of AN with normal chromosome 11p13 and PAX6 gene probably indicates involvement of some other loci that influence the functioning of AN gene. A comparison of previously reported cases with breakpoints at 6q16 and 18q23 illustrates the frequent association of ophthalmic abnormalities as well as other clinical abnormalities