Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;p11).
The case of a 6-year-old boy with bilateral retinoblastoma (RB) and apparently de novo balanced translocation t(2;9)(q11;p11) is presented. The normality of 13q14 chromosome region has been confirmed using high resolution techniques and Esterase D assay. The hypothesis that this RB might be correlated to the translocation is discussed.
D002648:Child; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005134:Eye Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D012175:Retinoblastoma / Q000235:genetics*; D014178:Translocation, Genetic