PMID: 6985466Jan 1, 1982Paper

Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it

Human Genetics
T MotegiK Minoda

Abstract

In serial cytogenetic examinations of peripheral lymphocytes from retinoblastoma patients, we found a patient with sporadic bilateral retinoblastoma with a de novo mutation of a 13/18 translocation, with their respective breakpoints at 13q141 and 18q122. The simultaneous de novo occurrence of retinoblastoma and the chromosomal rearrangement involving 13q14 in the proband suggests that the gene locus for retinoblastoma is at 13q141, particularly at the distal portion of it. Deletion mapping data are compatible with this suggestion.

References

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Citations

Nov 1, 1990·Genes, Chromosomes & Cancer·I MiuraJ R Testa
Apr 1, 1987·Human Genetics·R MiróJ Egozcue
Feb 1, 1984·European Journal of Pediatrics·P BalestrazziF Giraud
Aug 1, 1984·Cancer Genetics and Cytogenetics·M L Workman, S W Soukup
Apr 15, 1985·Cancer Genetics and Cytogenetics·C TurleauC Haye
May 1, 1997·Cancer Genetics and Cytogenetics·J R TestaT Taguchi
Jul 1, 1987·Journal of Medical Genetics·G PonzioC Danesino
Apr 1, 1992·American Journal of Medical Genetics·D StambolianB S Emanuel
Jun 1, 1983·Jinrui idengaku zasshi. The Japanese journal of human genetics·E Matsunaga
Jul 1, 1987·Journal of Medical Genetics·D R RomainR G Parfitt
Jun 1, 1989·Ophthalmic Paediatrics and Genetics·F MunierF Thonney
Jan 1, 1994·Clinical Genetics·M Janson, M Nordenskjöld
Mar 1, 1987·Ophthalmic Paediatrics and Genetics·C Turleau, J De Grouchy
Jul 15, 1983·Science·J J Yunis

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