SMALL SUPERNUMERARY MARKER CHROMOSOMES (sSMC) – WHAT ABOUT THE GENOTYPE-PHENOTYPE CORRELATION?
Thomas Liehr,1 Nadezda Kosyakova
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany;
1 e-mail: i8lith@mti.uni-jena.de
Genotype-phenotype correlations in patients with small supernumerary marker chromosomes (sSMC) are still difficult to asses. Here we review the presently known influence
of chromosomal imbalance induced by sSMC size and origin, mosaicism of sSMC in different cells of the body and uniparental disomy (UPD) of sSMC's sister chromosomes on the
clinical outcome.
Key words: genotype, phenotype, chromosomes, sSMC, mosaicism, uniparental disomy
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