Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma.
Chromosome examination of a female patient with 13/X translocation associated with retinoblastoma was carried out using peripheral blood lymphocytes and cultured skin fibroblasts. The constitutional karyotype was 46,X,t(13;X) (q12;p22). Q-banding analysis showed that the translocated chromosomes were of paternal origin. Studies on DNA replication pattern with Giemsa banding using the bromodeoxyuridine substitution technique revealed that the derivative X chromosome was late replicating, and the translocated chromosome 13 was affected by the spreading of lyonization. Such a functional monosomy of 13q14 may also be involved in retinal blasts, and be related to the development of retinoblastoma.
D002871:Chromosome Banding; D002901:Chromosomes, Human, 13-15; D004261:DNA Replication; D004303:Dosage Compensation, Genetic; D005134:Eye Neoplasms / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D012175:Retinoblastoma / Q000235:genetics*; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome