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; received in revised form 9 February 2010

Article Outline

Small supernumerary marker chromosomes (sSMCs) are a major problem in prenatal cytogenetic diagnostics. Over two-thirds of cases carrying an sSMC derived from chromosome 1 are associated with clinical abnormalities. We report 3 further cases of such sSMCs that did not show any clinical abnormalities. All 3 sSMCs studied were detected prenatally and characterized comprehensively for their genetic content by molecular cytogenetics using subcentromere-specific multicolor fluorescence in situ hybridization, and for a possibly associated uniparental disomy. After exclusion of additional euchromatin due to the presence of sSMCs and a uniparental disomy, parents opted for continuation of the pregnancies and healthy children were born in all 3 cases. It is important to quickly and clearly characterize prenatal sSMCs. Also, all available sSMC cases need to be collected on a homepage such as the Jena Institute of Human Genetics and Anthropology sSMC homepage (http://www.med.uni-jena.de/fish/sSMC/00START.htm).

Key Words:  chromosome 1 , genotype–phenotype correlation , molecular cytogenetics , small supernumerary marker chromosomes (sSMCs) , uniparental disomy

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References 

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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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