Literature DB >> 17341473

New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.

Holger Tönnies1, Joanna Pietrzak, Ewa Bocian, Kay MacDermont, Alma Kuechler, Britta Belitz, Udo Trautmann, Angela Schmidt, Berndt Schulze, Laura Rodríguez, Franz Binkert, Catharine Yardin, Nadezda Kosyakova, Marianne Volleth, Hasmik Mkrtchyan, Isolde Schreyer, Ferdinand von Eggeling, Anja Weise, Kristin Mrasek, Thomas Liehr.   

Abstract

Sixteen newly established cell lines with small supernumerary marker chromosomes (sSMC) derived from chromosomes 1, 2, 4, 6, 7, 8, 14, 15, 16, 18, 19, 21, and 22 are reported. Two sSMC are neocentric and derived from 15q24.1-qter and 2q35-q36, respectively. Two further cases each present with two sSMC of different chromosomal origin. sSMC were characterized by multicolor fluorescence in situ hybridization for their chromosomal origin and genetic content. Moreover, uniparental disomy of the sister chromosomes of the sSMC was excluded in all nine cases studied for that reason. The 16 cases provide information to establish a refined genotype-phenotype correlation of sSMC and are available for future studies.

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Year:  2007        PMID: 17341473     DOI: 10.1369/jhc.6A7161.2007

Source DB:  PubMed          Journal:  J Histochem Cytochem        ISSN: 0022-1554            Impact factor:   2.479


  5 in total

Review 1.  Neocentromeres: new insights into centromere structure, disease development, and karyotype evolution.

Authors:  Owen J Marshall; Anderly C Chueh; Lee H Wong; K H Andy Choo
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

2.  Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.

Authors:  Erin L Baldwin; Lorraine F May; April N Justice; Christa L Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2008-02       Impact factor: 11.025

3.  DNA probe pooling for rapid delineation of chromosomal breakpoints.

Authors:  Chun-Mei Lu; Johnson Kwan; Adolf Baumgartner; Jingly F Weier; Mei Wang; Tomas Escudero; Santiago Munné; Horst F Zitzelsberger; Heinz-Ulrich G Weier
Journal:  J Histochem Cytochem       Date:  2009-02-16       Impact factor: 2.479

4.  Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.

Authors:  Flavia A M Maggiolini; Stuart Cantsilieris; Pietro D'Addabbo; Michele Manganelli; Bradley P Coe; Beth L Dumont; Ashley D Sanders; Andy Wing Chun Pang; Mitchell R Vollger; Orazio Palumbo; Pietro Palumbo; Maria Accadia; Massimo Carella; Evan E Eichler; Francesca Antonacci
Journal:  PLoS Genet       Date:  2019-03-27       Impact factor: 5.917

5.  A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.

Authors:  Laura Rodríguez; Tomas Liehr; María Luisa Martínez-Fernández; Ana Lara; Antonio Torres; María Luisa Martínez-Frías
Journal:  Mol Cytogenet       Date:  2008-04-02       Impact factor: 2.009

  5 in total

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