Literature DB >> 3612720

Translocation X;13 in a patient with retinoblastoma.

G Ponzio, E Savin, G Cattaneo, M P Ghiotti, A Marra, O Zuffardi, C Danesino.   

Abstract

We describe the clinical and cytogenetic findings in a child with retinoblastoma and a translocation between chromosomes X and 13. The X;13 translocation in this patient does not involve band 13q14, the assigned locus for retinoblastoma.

Entities:  

Mesh：

Year:  1987        PMID： 3612720      PMCID： PMC1050153          DOI： 10.1136/jmg.24.7.431

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  10 in total

1.  Expression of recessive alleles by chromosomal mechanisms in retinoblastoma.

Authors:  W K Cavenee; T P Dryja; R A Phillips; W F Benedict; R Godbout; B L Gallie; A L Murphree; L C Strong; R L White
Journal:  Nature       Date:  1983 Oct 27-Nov 2       Impact factor: 49.962

2.  Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.

Authors:  T Mohandas; R S Sparkes; L J Shapiro
Journal:  Am J Hum Genet       Date:  1982-09       Impact factor: 11.025

3.  Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma.

Authors:  Y Ejima; M S Sasaki; A Kaneko; H Tanooka; Y Hara; T Hida; Y Kinoshita
Journal:  Clin Genet       Date:  1982-06       Impact factor: 4.438

4.  Retinoblastoma: host resistance and 13q- chromosomal deletion.

Authors:  E Matsunaga
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

Authors:  R S Sparkes; M C Sparkes; M G Wilson; J W Towner; W Benedict; A L Murphree; J J Yunis
Journal:  Science       Date:  1980-05-30       Impact factor: 47.728

6.  Late replication in an X-autosome translocation in the mouse: correlation with genetic inactivation and evidence for selective effects during embryogenesis.

Authors:  C M Disteche; E M Eicher; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1979-10       Impact factor: 11.205

7.  Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.

Authors:  P Ward; S Packman; W Loughman; M Sparkes; R Sparkes; A McMahon; T Gregory; A Ablin
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

8.  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.

Authors:  T Motegi; M Komatsu; Y Nakazato; M Ohuchi; K Minoda
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

9.  Mutation and cancer: statistical study of retinoblastoma.

Authors:  A G Knudson
Journal:  Proc Natl Acad Sci U S A       Date:  1971-04       Impact factor: 11.205

Review 10.  The Costenbader Memorial Lecture. Genesis and genetics of retinoblastoma.

Authors:  J François; S DeBie; M T Leuven
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1979 Mar-Apr       Impact factor: 1.402
  10 in total
  2 in total

1.  Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

Authors:  C Jones; C Booth; D Rita; L Jazmines; B Brandt; A Newlan; B Horsthemke
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

2.  A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.

Authors:  Makiko Tsutsumi; Hiroyoshi Hattori; Nobuhiro Akita; Naoko Maeda; Toshinobu Kubota; Keizo Horibe; Naoko Fujita; Miki Kawai; Yasuko Shinkai; Maki Kato; Takema Kato; Rie Kawamura; Fumihiko Suzuki; Hiroki Kurahashi
Journal:  BMC Med Genomics       Date:  2019-12-05       Impact factor: 3.063
  2 in total

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