Literature DB >> 910860

Retinoblastoma in a patient with a 13qXp translocation.

H E Cross, R C Hansen, G Morrow, J R Davis.   

Abstract

An infant girl with failure to thrive and bilateral retinoblastoma had a translocation of the long arm of chromosome 13 to the short arm of the X chromosome, and possible loss of a portion of the q 14 band. The lack of other major organ malformations in this patient emphasized the importance of considering chromosomal aberrations as a possible etiology of retinoblastoma in patients with nonspecific psychomotor retardation.

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Mesh：

Year:  1977        PMID： 910860     DOI： 10.1016/0002-9394(77)90450-0

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


  15 in total

1.  Interstitial deletion of chromosome 13 and associated congenital anomalies.

Authors:  W W Nichols; R C Miller; E Hoffman; D Albert; R R Weichselbaum; J Nove; J B Little
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

2.  Retinoblastoma and partial deletion of the long arm of chromosome 13.

Authors:  R O Howard; D Warburton; W R Breg; O J Miller; J McKeown; S P Rubin
Journal:  Trans Am Ophthalmol Soc       Date:  1978

3.  Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism.

Authors:  T Motegi
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  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

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

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

6.  Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome.

Authors:  T Mohandas; L J Shapiro; R S Sparkes; M C Sparkes
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       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.  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

9.  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

10.  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
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