Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation.
Mrasek K, Starke H, Liehr T.
Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany.
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.
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PMID: 15750022 [PubMed - indexed for MEDLINE]