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  • Title: Deletion of 13q in two patients with retinoblastoma, one probably due to 13q-mosaicism in the mother.
    Author: Michalová K, Kloucek F, Musilová J.
    Journal: Hum Genet; 1982; 61(3):264-6. PubMed ID: 7173873.
    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.
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