Literature DB >> 6734677

Bilateral retinoblastoma with de novo constitutional balanced translocation t(2;9)(q11;p11).

P Balestrazzi, M G Mattei, M A Baeteman, J F Mattei, F Giraud.   

Abstract

The case of a 6-year-old boy with bilateral retinoblastoma (RB) and apparently de novo balanced translocation t(2;9)(q11;p11) is presented. The normality of 13q14 chromosome region has been confirmed using high resolution techniques and Esterase D assay. The hypothesis that this RB might be correlated to the translocation is discussed.

Entities:  

Mesh：

Year:  1984        PMID： 6734677     DOI： 10.1007/BF00572772

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  15 in total

1.  Chromosomes in retinoblastoma patients.

Authors:  E V Davison; B Gibbons; G E Aherne; D F Roberts
Journal:  Clin Genet       Date:  1979-06       Impact factor: 4.438

2.  Evidence for a null allele at the esterase D (EC 3.1.1.1) locus.

Authors:  R S Sparkes; S Targum; E Gershon; G F Sensabaugh; M C Sparkes; M Crist
Journal:  Hum Genet       Date:  1979-02-15       Impact factor: 4.132

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.  Further observations on a 13qXp translocation associated with retinoblastoma.

Authors:  W W Nichols; R C Miller; M Sobel; E Hoffman; R S Sparkes; T Mohandas; I Veomett; J R Davis
Journal:  Am J Ophthalmol       Date:  1980-05       Impact factor: 5.258

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.  Retinoblastoma and subband deletion of chromosome 13.

Authors:  J J Yunis; N Ramsay
Journal:  Am J Dis Child       Date:  1978-02

7.  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

8.  Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas.

Authors:  V M Riccardi; H M Hittner; U Francke; S Pippin; G P Holmquist; F L Kretzer; R Ferrell
Journal:  Clin Genet       Date:  1979-04       Impact factor: 4.438

9.  Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

Authors:  P Balestrazzi; M A Baeteman; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Mental retardation associated with "balanced" chromosome rearrangements.

Authors:  S J Funderburk; M A Spence; R S Sparkes
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025
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