High-resolution chromosome analysis in retinoblastoma

Peripheral blood chromosomes of 13 patients with retinoblastoma and of their 20 first degree relatives were examined. In three of them chromosomal aberrations were found. Chromosomal anomalies were revealed in one case the patient's father only (the child died and the examination could not be performed) [del(13)(q12.11-q12.13)] and in another case both in the patient [t(13;14)] and in the father as well. This data support the view that some cases of retinoblastoma are closely linked to chromosomal rearrangements in the parental karyotype.