Literature DB >> 6316832

Two cases of del(13q)-retinoblastoma and two cases of partial trisomy due to a familial insertion.

C Turleau, J de Grouchy, F Chavin-Colin, S Despoisses, A Leblanc.   

Abstract

A del(13)(q13q21.1) was found in a patient with bilateral retinoblastoma and mental retardation. The father was carrier of an ins(16;13)(q12.2;q13q21.1) which also was present in several other family members, and responsible for another case of del (13q)-retinoblastoma and two cases of trisomy for the inserted segment. This second del(13q) patient was also carrier of a balanced t(11;22).

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Year:  1983        PMID： 6316832

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  8 in total

1.  Involvement of the region 13q14 in a patient with adamantinoma of the long bones.

Authors:  G Sozzi; M Miozzo; S Di Palma; A Minelli; C Calderone; C Danesino; U Pastorino; M A Pierotti; G Della Porta
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families?

Authors:  C Bonaïti-Pellié; F Clerget-Darpoux; M C Babron
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

Review 3.  13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.

Authors:  Gregory Costain; Candice K Silversides; Christian R Marshall; Mary Shago; Nicholas Costain; Anne S Bassett
Journal:  Int J Cardiol       Date:  2010-07-03       Impact factor: 4.164

Review 4.  Microcytogenetics 1984.

Authors:  J de Grouchy; C Turleau
Journal:  Experientia       Date:  1986-10-15

5.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Deletion of band 13q21 is compatible with normal phenotype.

Authors:  J Couturier; N Morichon-Delvallez; B Dutrillaux
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  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

8.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  8 in total

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