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Characterisation of Small Supernumerary Marker Chromosomes (sSMC) in Human

[ Vol. 5 , Issue. 3 ]

Author(s):

Thomas Liehr, Kristin Mrasek, Anja Weise, Alma Kuechler, Ferdinand von Eggeling, Uwe Claussen and Heike Starke   Pages 279 - 286 ( 8 )

Abstract:


Small supernumerary marker chromosomes (sSMC) in human are present in 0.043% of newborn children. They can be defined as additional centric chromosome fragments smaller than chromosome 20. sSMC include cases with the i(18p)-, the i(12p)- (i.e. Pallister Killian-) or the inv dup(22)- (i.e. cat-eye-) syndrome. However, about 30% of the remaining sSMC are not yet correlated with clinical syndromes, mostly due to problems in comprehensive characterisation of the sSMC. Here we present an overview of the approaches for sSMC characterisation and suggest a strategy for a straightforward and comprehensive characterisation of the marker chromosomes in question.

Keywords:

small supernumerary marker chromosome, esac, ring chromosome, fluorescence in situ hybridisation, classification of ssmc

Affiliation:

Institut fur Humangenetik, Postfach, D-07740 Jena, Germany.



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