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Small Supernumerary Marker Chromosomes Additionally to Other Chromosomal Rearrangements

  • Thomas LiehrEmail author
Chapter
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Abstract

A small supernumerary marker chromosome can appear as a single chromosomal aberration or together with other genetic changes present in the corresponding patient. In this chapter, such cases are treated in detail, including loss or gain of gonosomes, trisomy 21, or other autosomal gain, microdeletions, the McClintock mechanism, other structural chromosomal rearrangements, and also molecular aberrations.

Keywords

Down Syndrome CYP21A2 Gene Klinefelter Syndrome Molecular Aberration Structural Chromosomal Change 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. Liehr T (2011a) The sSMC homepage. http://www.med.uni-jena.de/fish/sSMC/00START.htm. Cited 10 Jan 2011
  2. Liehr T (2011a) Homepage on multicolor fluorescence in situ hybridization (mFISH) literature. http://www.med.uni-jena.de/fish/mFISH/mFISHlit.htm. Cited 10 Jan 2011
  3. Liehr T (2011b) Homepage on Cases with uniparental disomy (UPD). http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Cited 10 Jan 2011
  4. Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T (2002) Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements. Eur J Hum Genet 10:790–800PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  1. 1.Institut für HumangenetikUniversitätsklinikum JenaJenaGermany

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