Characterization of Mosaicism in Various Easy-to-Acquire Body Tissues Such as Buccal Smears, Hair Root Cells or Urine

  • Kristin MrasekEmail author
  • Anja Weise
  • Madeleine Gross
  • Hasmik Mkrtchyan
  • Thomas Liehr
Part of the Springer Protocols Handbooks book series (SPH)

Mosaic karyotypes are present in at least 0.3–1% of the clinical cases analyzed by banding cytogenetics. It is well known that the pattern of mosaicism can vary greatly in different tissue types from the same patient. However, normally a maximum of two different tissues from a child or an adult are studied cytogenetically, i.e., peripheral blood and skin fibroblasts. Preparation protocols for three further tissues are presented here. All three are easy to obtain, and the resulting preparations of interphase nuclei can be used in routine interphase FISH applications. A summary of how to treat buccal smears, hair root cells or urine before the FISH procedure is also provided.


Buccal Mucosa Hypotonic Solution Hair Root Cell Clean Slide Banding Cytogenetic 
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Supported in part by the Evangelische Studienwerk e.V. Villigst, Dr. Robert Pfleger-Stiftung, Ernst-Abbe-Stiftung, the IZKF Jena (Start-up S16, TP 3.7), TMWFK (B307-04004), DFG (436 ARM 17/5/06), Stiftung Leukämie and Stefan-Morsch-Stiftung.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2009

Authors and Affiliations

  • Kristin Mrasek
      Email author
    • Anja Weise
      • Madeleine Gross
        • Hasmik Mkrtchyan
          • Thomas Liehr

            There are no affiliations available

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