Journal of Histochemistry and Cytochemistry
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DOI: 10.1369/jhc.4B6414.2005
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Journal of Histochemistry and Cytochemistry
Volume 53 (3): 367-370, 2005
Copyright ©The Histochemical Society, Inc.

BRIEF REPORT

Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2 : Towards a Genotype/Phenotype Correlation

Kristin Mrasek, Heike Starke and Thomas Liehr

Institute of Human Genetics and Anthropology, Jena, Germany

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

Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX,+r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested. (J Histochem Cytochem 53:367–370, 2005)

Key Words: prenatal diagnosis • FISH • small supernumerary marker • chromosome • chromosome 2q • genotype/phenotype • correlation


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