Centric Small Supernumerary Marker Chromosomes



The group of centric small supernumerary marker chromosomes (sSMC) with different chromosomal origin constitutes about 34% of the reported cases of patients with karyotype 47,XN,+mar. This group contains the most heterogeneous fraction of sSMC patients. Clinically healthy to severely affected individuals have been reported. In future it may be possible for more distinct syndromes, e.g., Pallister–Kilian syndrome, cat eye syndrome, and Emanuel syndrome, to be characterized among them. In this chapter centric sSMC are treated by their chromosomal origin. For each chromosome, present knowledge on the potentially non-dose-sensitive pericentric region, clinical signs, corresponding whole-arm trisomies and tetrasomies, mosaicism, and uniparental disomy is given. For 19 chromosomes, case reports provided by families having a child with a corresponding sSMC are included.


Mental Retardation Down Syndrome Pericentric Region Partial Trisomy Uniparental Disomy 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.Institut für HumangenetikUniversitätsklinikum JenaJenaGermany

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