CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMO­SOMES BY A SIMPLE MOLECULAR AND MOLECULAR CYTOGENETICS APPROACH
Liehr T1,*, Trifonov V1,2, Polityko A1,3, Brecevic L1,4, Mrasek K1, Weise A1, Ewers E1, Reich D1, Iourov I1,5, Mkrtchyan H1,6, Manvelyan M1,6, Kosyakova N1,7
*Corresponding Author: Dr. Thomas Liehr, Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07743 Jena, Germany; Tel.: +49-3641-935533; Fax: 0049-3641-935582; E-mail: i8lith@mti.uni-jena.de
page: 33

Abstract

Small supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromosome 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2,211 reported cases (http://www.markerchromosomes.ag.vu) to quickly characterize the sSMC’s chromosomal origin.

Key words: Small supernumerary marker chromosomes (sSMC); Cytogenetic(s); Fluorescence in situ hybridization (FISH); Metaphase FISH, Molecular cytogenetics; Prenatal diagnostics

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1 Institute of Human Genetics and Anthropology, Friedrich-Schiller-University Jena, Germany

             2 Institute of Cytology and Genetics, Novosibirsk, Russia

             3 Institute of Hereditary Diseases, Minsk, Belarus

4 School of Medicine, Croatian Institute for Brain Research, Zagreb, Croatia

5 National Research Center of Mental Health, Russian Academy of Medical Sciences, Moscow, Russia

6 Department of Genetic and Laboratory of Cytogenetics, State University, Jerewan, Armenia

7 Research Centre for Medical Genetics, Russian Academy of Medical Sciences, Moscow, Russian Federation




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