Summary
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.
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Calzolari, E., Palazzi, P., Aiello, V. et al. De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma. Hum Genet 77, 51–54 (1987). https://doi.org/10.1007/BF00284713
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DOI: https://doi.org/10.1007/BF00284713