De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma.
We report a case of a 5-month-old female with sporadic monolateral retinoblastoma (RB) with a constitutional de novo complex autosomal translocation involving chromosomes 8, 13 and 15 resulting in a deletion of chromosome 13q14 confirmed by esterase D assay. The translocation of the terminal portion of chromosome 8 has been observed by in situ hybridization with c-myc and thyroglobulin probes.
D002871:Chromosome Banding; D002882:Chromosomes, Human, Pair 13; D002884:Chromosomes, Human, Pair 15; D002898:Chromosomes, Human, Pair 8; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007621:Karyotyping; D012175:Retinoblastoma / Q000235:genetics*; D014178:Translocation, Genetic
D005819:Genetic Markers