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Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma
Author(s) -
Ejima Yosuke,
Sasaki Masao S.,
Kaneko Akihiro,
Tanooka Hiroshi,
Hara Yutaka,
Hida Tetsuo,
Kinoshita Yoshihiro
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01387.x
Subject(s) - chromosomal translocation , retinoblastoma , biology , karyotype , chromosome , monosomy , genetics , microbiology and biotechnology , derivative chromosome , homologous chromosome , g banding , giemsa stain , gene
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.