De novo complex autosomal translocation involving chromosomes 8, 13 and 15 in a girl with a sporadic retinoblastoma |
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| Authors: | E Calzolari P Palazzi V Aiello E Mazzeo P Perri A Minelli L delSenno P Patracchini F Bernardi |
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| Institution: | (1) Istituto di Genetica Medica, Università degli Studi Ferrara, Via L. Borsari 46, I-44100 Ferrara, Italy;(2) Clinica Oculistica, Università degli Studi Ferrara, Via L. Borsari 46, I-44100 Ferrara, Italy;(3) Centro Studi Morbo di Cooley, Università degli Studi Ferrara, Via L. Borsari 46, I-44100 Ferrara, Italy;(4) Istituto di Biologia Generale e Genetica Medica, Casella Postate 217, I-27100 Pavia, Italy |
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| Abstract: | 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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