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New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome: Towards the Establishment of a Cell Bank

Holger Tönnies, 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 and Thomas Liehr

Institute of Human Genetics, Charité Campus Virchow, Berlin, Germany (HT); Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland (JP,EB); The North West London Hospital, NHS Trust, Harrow, Middlesex, United Kingdom (KMacDermont); Institute of Human Genetics and Anthropology, Jena, Germany (AK,NK,HM,IS,FVE,AW,KMrasek,TL); Department of Pediatrics, University Clinic, Jena, Germany (AK); Practice for Human Genetics, Berlin, Germany (BB); Institute of Human Genetics, Erlangen, Germany (UT); Practice for Human Genetics, Hannover, Germany (AS,BS); Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain (LR); MCL Medical Laboratories, Niederwangen, Switzerland (FB); Service d'Histologie Cytologie Cytogenetique Biologie Cell et de la Reproduction, Limoges, Cedex, France (CY); Research Centre for Medical Genetics, Moscow, Russia (NK); Institute of Human Genetics, Magdeburg, Germany (MV); and Department of Genetics and Laboratory of Cytogenetics, State University, Jerewan, Armenia (HM)

Correspondence to: PD Dr. Thomas Liehr, Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany. E-mail: i8lith{at}mti.uni-jena.de

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. (J Histochem Cytochem 55:651–660, 2007)

Key Words: small supernumerary marker chromosome • cell line • Epstein–Barr virus immortalization • genotype–phenotype correlation • cell bank

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