In:
Clinical Genetics, Wiley, Vol. 21, No. 6 ( 1982-06), p. 357-361
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.
Type of Medium:
Online Resource
ISSN:
0009-9163
,
1399-0004
DOI:
10.1111/cge.1982.21.issue-6
DOI:
10.1111/j.1399-0004.1982.tb01387.x
Language:
English
Publisher:
Wiley
Publication Date:
1982
detail.hit.zdb_id:
2004581-5
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