Journal of the Chinese Medical Association
Volume 73, Issue 4 , Pages 205-207 , April 2010

Small Supernumerary Marker Chromosomes 1 With a Normal Phenotype

  • Thomas Liehr

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • Corresponding Author InformationCorrespondence to: Dr Thomas Liehr, Institut für Humangenetik, Postfach D-07740 Jena, Germany
    • ,
  • Rolf-Dieter Wegner

      Affiliations

    • Zentrum für Pränataldiagnostik, Berlin
    • ,
  • Markus Stumm

      Affiliations

    • Zentrum für Pränataldiagnostik, Berlin
    • ,
  • Thomas Martin

      Affiliations

    • Genetische Beratung und Klinische Genetik Biomedizinisches Zentrum, Homburg, Germany
    • ,
  • Gabriele Gillessen-Kaesbach

      Affiliations

    • Institute of Human Genetics, Lübeck, Germany
    • ,
  • Nadezda Kosyakova

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • ,
  • Elisabeth Ewers

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • ,
  • Ahmed Basheer Hamid

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • ,
  • Ferdinand von Eggeling

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • ,
  • Julia Hentschel

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • ,
  • Monika Ziegler

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena
    • ,
  • Anja Weise

      Affiliations

    • Jena University Hospital, Institute of Human Genetics and Anthropology, Jena

Received 16 April 2009 ,Revised 9 February 2010

References 

  1. Fickelscher I, Starke H, Schulze E, Ernst G, Kosyakova N, Mkrtchyan H, et al  A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1: evidence for high variability in mosaicism in different tissues of sSMC carriers . Prenat Diagn . 2007;27:783–785
  2. Liehr T , Claussen U , Starke H . Small supernumerary marker chromosomes (sSMC) in humans . Cytogenet Genome Res . 2004;107:55–67
  3. Liehr T, Mrasek K, Weise A, Dufke A, Rodríguez L, Martínez Guardia N, et al  Small supernumerary marker chromosomes: progress towards a genotype-phenotype correlation . Cytogenet Genome Res . 2006;112:23–34
  4. Liehr T . sSMC homepage . Available at http://www.med.uni-jena.de/fish/sSMC/00START.htm [Date accessed: April 15, 2009]
  5. Warburton D . De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints . Am J Hum Genet . 1991;49:995–1013
  6. Crolla JA , Long F , Rivera H , Dennis NR . FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases . Am J Med Genet . 1998;75:355–366
  7. Liehr T , Weise A . Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics . Int J Mol Med . 2007;19:719–731
  8. Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, Wlodarska I, et al  A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH) . Hum Genet . 2001;108:199–204
  9. Röthlisberger B , Zerova T , Kotzot D , Buzhievskaya TI , Balmer D , Schinzel A . Supernumerary marker chromosome(1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child . J Med Genet . 2001;38:885–888
  10. Finelli P, Cavalli P, Giardino D, Gottardi G, Natacci F, Savasta S, et al. FISH characterization of a supernumerary r(1)(::cen→sq21::) chromosome associated with multiple anomalies and bilateral cataracts . Am J Med Genet . 2001;104:157–164
  11. Backx L, Van Esch H, Melotte C, Kosyakova N, Starke H, Frijns JP, et al  Array painting using microdissected chromosomes to map chromosomal breakpoints . Cytogenet Genome Res . 2007;116:158–166
  12. Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, Weise A, et al  Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients . J Appl Genet . 2007;48:167–175

PII: S1726-4901(10)70042-3

doi: 10.1016/S1726-4901(10)70042-3

Journal of the Chinese Medical Association
Volume 73, Issue 4 , Pages 205-207 , April 2010

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