Literature DB >> 2674826

Constitutional karyotype in retinoblastoma. Case report and review of literature.

F Munier1, G Pescia, M Jotterand-Bellomo, A Balmer, C Gailloud, F Thonney.   

Abstract

High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.

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Year:  1989        PMID： 2674826     DOI： 10.3109/13816818909088353

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  8 in total

Review 1.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

2.  Radiographic findings in 13q-syndrome.

Authors:  S C Kaste; C B Pratt
Journal:  Pediatr Radiol       Date:  1993

3.  Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene.

Authors:  F Munier; M A Spence; G Pescia; A Balmer; C Gailloud; F Thonney; G van Melle; H P Rutz
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

4.  Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

Authors:  K C Sippel; R E Fraioli; G D Smith; M E Schalkoff; J Sutherland; B L Gallie; T P Dryja
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

5.  The genetics of retinoblastoma, revisited.

Authors:  A Naumova; C Sapienza
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

6.  Retinoblastoma and the genetic theory of cancer: an old paradigm trying to survive to the evidence.

Authors:  Domenico Mastrangelo; Theodora Hadjistilianou; Sonia De Francesco; Cosimo Loré
Journal:  J Cancer Epidemiol       Date:  2009-10-27

Review 7.  Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2017-05-19       Impact factor: 2.009

Review 8.  Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  J Appl Genet       Date:  2022-01-01       Impact factor: 3.240
  8 in total

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