Literature DB >> 7391906

Bilateral retinoblastoma with a 13qXp translocation.

T Hida, Y Kinoshita, R Matsumoto, N Suzuki, H Tanaka.   

Abstract

An infant girl suffering from bilateral retinoblastoma and psychomotor retardation with a translocation of the long arm of chromosome 13 to the short arm of the X chromosome was described. The break point was determined to locate in band 13. As the band q14 is probably intact, the position effect might have attributed to the formation of retinoblastoma in this case.

Entities:  

Mesh：

Year:  1980        PMID： 7391906     DOI： 10.3928/0191-3913-19800501-04

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


  6 in total

1.  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

2.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions.

Authors:  J K Cowell; E Thompson; P Rutland
Journal:  Arch Dis Child       Date:  1987-01       Impact factor: 3.791

4.  Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.

Authors:  O Zuffardi; M Fraccaro
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

Review 5.  Balanced structural changes involving the human X: effect on sexual phenotype.

Authors:  K Madan
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

6.  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
  6 in total

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