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Vol. 91, No. 1-4, 2000
Issue release date: 2000
Section title: Paper
Cytogenet Cell Genet 91:141–147 (2000)
(DOI:10.1159/000056835)

Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium

Kutsche K. · Glauner E. · Knauf S. · Pomarino A. · Schmidt M. · Schröder B. · Nothwang H.G. · Schüler H.M. · Goecke T.O. · Kersten A.J. · Althaus C. · Gal A.
aInstitut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Hamburg; bMax-Planck-Institut für Molekulare Genetik, Berlin; cInstitut für Humangenetik und Anthropologie der Heinrich-Heine-Universität, Düsseldorf; and dAugenklinik der Heinrich-Heine-Universität, Düsseldorf (Germany)

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Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 1/30/2001

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR

Abstract

Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. Combined hamartoma of the retinal pigment epithelium (RPE) and retina is a rare, congenital, focal malformation of the fundus. So far, no disease gene has been associated with this disorder. By molecular analysis of an apparently balanced and reciprocal translocation between the short arms of chromosomes 11 and 18, t(11;18)(p13;p11.31), in a patient with hamartoma of the RPE and retina, we selected PAC clones crossing the breakpoints on both derivative chromosomes 11 and 18. For the overlapping chromosome 11 clone, two EST clusters were identified, suggesting the existence of at least two genes in the breakpoint region. We constructed a PAC contig and showed that at least three exons of a novel gene map to the breakpoint region on chromosome 18. Based on the results of FISH analysis with the PAC clones of this contig, we suggest the occurrence of a complex rearrangement.   


  

Author Contacts

Request reprints from Prof. Dr. A. Gal, Institut für Humangenetik,Universitätsklinikum Hamburg-Eppendorf, Butenfeld 42,D–22529 Hamburg (Germany); telephone: +49-40-42803-2120;fax: +49-40-42803-5138; e-mail: gal@uke.uni-hamburg.de

  

Article Information

Supported by a grant from the Deutsche Forschungsgemeinschaft (SFB444). H.G.N.’s present address is Sinnes- und Entwicklungs-Neurobiologie, Universität Kaiserslautern, Postfach 3049, D–67653 Kaiserslautern (Germany). H.M.S.’s present address is Institut für Humangenetik der RWTH Aachen, Pauwelsstrasse 30, D–52074 Aachen (Germany).

Received: Received 18 August 2000;
accepted 5 September 2000.
Number of Print Pages : 7
Number of Figures : 3, Number of Tables : 1, Number of References : 33

  

Publication Details

Cytogenetics and Cell Genetics
Founded 1962 as Cytogenetics by H.P. Klinger

Vol. 91, No. 1-4, Year 2000 (Cover Date: 2000)

Journal Editor: H.P. Klinger, Bronx, N.Y.; M. Schmid, Würzburg
ISSN: 0301–0171 (print), 1422–9816 (Online)

For additional information: http://www.karger.com/journals/ccg


Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: 1/30/2001

Number of Print Pages: 7
Number of Figures: 3
Number of Tables: 1

ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)

For additional information: http://www.karger.com/CGR


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