Small supernumerary marker chromosomes (sSMC) - what about the genotype-phenotype correlation?

Th, Liehr; N, Kosyakova

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Tsitologiya

Article . 2013

Data sources: Europe PubMed Central

Small supernumerary marker chromosomes (sSMC) - what about the genotype-phenotype correlation?

descriptionPublicationkeyboard_double_arrow_right Article 12 Jul 2013 English Journal:Tsitologiia, volume 55 (issn: 0041-3771,

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Authors: Th, Liehr; N, Kosyakova;

pmid: 23795458

Small supernumerary marker chromosomes (sSMC) - what about the genotype-phenotype correlation?

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Abstract

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.

Related Organizations

Institut für Humangenetik
Germany
Jena University Hospital
Germany
Friedrich Schiller University Jena
Germany

Keywords

Chromosome Aberrations, Genetic Markers, Mosaicism, Karyotyping, Humans, Uniparental Disomy, Chromosomes, Genetic Association Studies, In Situ Hybridization, Fluorescence

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