Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother.
We examined the peripheral blood chromosomes of eight patients with retinoblastoma. In two of them an interstitial deletion of 13q was found. The breakpoints were determined as follows: case 1, 13q12 leads to 21; case 2 13q12 leads to 31. In both cases, band 13q14 was deleted. In case 2 the lymphocytes of the mother showed the identical interstitial 13q deletion in 3 of 100 mitoses, thus raising the possibility of maternal origin of the 13q deletion in a child. In one patient, retinoblastoma was unilateral; in the other, bilateral. Both patients were mentally retarded.
D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D012175:Retinoblastoma / Q000235:genetics*