title: Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother.
abstract: 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.
mesh_terms: 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*