[Genetic study of retinoblastoma].

Eight patients with retinoblastoma were studied by high resolution chromosome R-banding technique, and the EsD was quantitatively determined in red blood cells of the patients. Among these patients, two cases showed 13 q 14 deletion mosaicism, one showed a monosomy 13 q 14.1----q 14.2, and the rest had normal karyotype. The EsD activity was proportional to the number of copies of 13 q 14.1 region present. Our findings indicate that (1) the RB gene is located at 13 q 14.1, a region which is critical in the etiology of retinoblastoma, (2) 13q deletion is an important event in the development of retinoblastoma, and (3) EsD determination is an important diagnostic tool in the detection of 13 q deletion, useful for prenatal diagnosis and genetic counselling, permitting early institution of treatment upon early diagnosis.