Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma
- 1 June 1982
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 21 (6) , 357-361
- https://doi.org/10.1111/j.1399-0004.1982.tb01387.x
Abstract
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(l 3;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.Keywords
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