Lymphocyte chromosome survey in 42 patients with retinoblastoma: Effort to detect 13q14 deletion mosaicism

Summary The results of a lymphocyte chromosome survey of retinoblastoma (Rb) patients using a method able to detect a relatively low proportion mosaicism of 13q14 deletion are presented. Three out of 42 Rb patients had abnormal karyotypes; two mosaic cases with the karyotype 46,XY,del(13) (q14.1q14.3)/46,XY and 46,XX,del(13)(q14.1q14.3)/46,XX(the proportions of 13q14-cells, 51% and 9%, respectively), and the other with the karyotype 46,XY,del(13)(q14.1q21.2). All of these three cases had bilateral sporadic Rb. Two mosaic cases had an apparently normal phenotype except for Rb. These data suggest that the frequency of Rb cases with a 13q- cell line in lymphocytes may be greater than that which has been reported.