Summary
Using a cell population with a high proportion of early mitotic cells and by examining more cells derived from peripheral lymphocytes, we found three cases with a 13q14 deletion mosaicism among fifteen retinoblastoma patients; one with a de novo 13/18 balanced translocation, and another with a monosomy 13(q13»q21.2 or 21.3). The three patients with a 13q14 deletion mosaicism had sporadic retinoblastoma (two had bilateral and one unilateral retinoblastoma). The results indicate that 13q14 deletion mosaicism plays a major role in the etiology of this tumor.
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Motegi, T. High rate of detection of 13q14 deletion mosaicism among retinoblastoma patients (using more extensive methods). Hum Genet 61, 95–97 (1982). https://doi.org/10.1007/BF00274194
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DOI: https://doi.org/10.1007/BF00274194