Literature DB >> 3365680

Bilateral retinoblastoma associated with 13q-mosaicism. Possible manifestation of a germinal mutation.

M C Ribeiro1, J A Andrade, C M Erwenne, D Brunoni.   

Abstract

Fifteen retinoblastoma patients were studied cytogenetically using G- and R-banding techniques. One patient showed 13q-mosaicism. It is suggested that a postzygotic deficiency in mosaic cases and in tumoral cells may be secondary to germinal mutation.

Entities:  

Mesh：

Year:  1988        PMID： 3365680     DOI： 10.1016/0165-4608(88)90279-8

Source DB:  PubMed          Journal:  Cancer Genet Cytogenet        ISSN： 0165-4608


  7 in total

1.  Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.

Authors:  D R Lohmann; M Gerick; B Brandt; U Oelschläger; B Lorenz; E Passarge; B Horsthemke
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

2.  Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.

Authors:  Rachel C Brennan; Ibrahim Qaddoumi; Catherine A Billups; Tracy Kaluzny; Wayne L Furman; Matthew W Wilson
Journal:  Pediatr Blood Cancer       Date:  2016-07-13       Impact factor: 3.167

3.  Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Authors:  K C Sippel; R E Fraioli; G D Smith; M E Schalkoff; J Sutherland; B L Gallie; T P Dryja
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

4.  Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

Authors:  Sara Amitrano; Annabella Marozza; Serena Somma; Valentina Imperatore; Theodora Hadjistilianou; Sonia De Francesco; Paolo Toti; Daniela Galimberti; Ilaria Meloni; Francesco Cetta; Pietro Piu; Chiara Di Marco; Laura Dosa; Caterina Lo Rizzo; Giulia Carignani; Maria Antonietta Mencarelli; Francesca Mari; Alessandra Renieri; Francesca Ariani
Journal:  Eur J Hum Genet       Date:  2015-02-25       Impact factor: 4.246

5.  The genetics of retinoblastoma, revisited.

Authors:  A Naumova; C Sapienza
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

6.  Detection of mutations of the RB1 gene in retinoblastoma patients by using exon-by-exon PCR-SSCP analysis.

Authors:  T Shimizu; J Toguchida; M V Kato; A Kaneko; K Ishizaki; M S Sasaki
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

7.  Somatic mosaicism in a patient with bilateral retinoblastoma.

Authors:  V Greger; E Passarge; B Horsthemke
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025
  7 in total

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