Literature DB >> 8465849

Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.

F E Marchau1, B C Van Roy, P M Parizel, J R Lambert, I De Canck, J G Leroy, C M Gevaert, P J Willems, J E Dumon.   

Abstract

Tricho-rhino-phalangeal (TRP) syndromes type I and II are caused by a defective gene located on chromosome 8q24.1. We report a family with 2 sibs affected with TRP type I in combination with an apparently balanced chromosome (8;18) translocation involving 8q24.11. It is very likely that the 8q24 translocation breakpoint is physically linked to the TRP gene(s), thereby facilitating future efforts to clone the TRP gene(s).

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Year:  1993        PMID： 8465849     DOI： 10.1002/ajmg.1320450411

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression.

Authors:  Dezső David; Bárbara Marques; Cristina Ferreira; Carlos Araújo; Luís Vieira; Gabriela Soares; Cristina Dias; Maximina Pinto
Journal:  Hum Genet       Date:  2013-07-09       Impact factor: 4.132

2.  Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

Authors:  H J Lüdecke; J Schaper; P Meinecke; P Momeni; S Gross; H Hirche; M J Abramowicz; B Albrecht; C Apacik; H J Christen; U Claussen; K Devriendt; E Fastnacht; A Forderer; U Friedrich; T H Goodship; M Greiwe; H Hamm; R C Hennekam; G K Hinkel; M Hoeltzenbein; H Kayserili; F Majewski; M Mathieu; R McLeod; A T Midro; U Moog; T Nagai; N Niikawa; K H Orstavik; E Plöchl; C Seitz; J Schmidtke; L Tranebjaerg; M Tsukahara; B Wittwer; B Zabel; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  2000-12-07       Impact factor: 11.025

3.  New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.

Authors:  Milena Crippa; Ilaria Bestetti; Mario Perotti; Chiara Castronovo; Silvia Tabano; Chiara Picinelli; Guido Grassi; Lidia Larizza; Angela Ida Pincelli; Palma Finelli
Journal:  BMC Med Genet       Date:  2014-05-02       Impact factor: 2.103
  3 in total

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