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Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot
  1. Jörg Weimera,
  2. Marion Kiechlea,
  3. Ute Wiedemannb,
  4. Holger Tönniesc,
  5. Heidemarie Neitzelc,
  6. Eberhard Ruhenstrothd,
  7. Angela Ovens-Raederb,
  8. Norbert Arnolda
  1. aKlinikum der Christian-Albrechts- Universität zu Kiel, Frauenklinik Onkologisches Labor, Michaelisstrasse 16, D-24105 Kiel, Germany, bGemeinschaftspraxis Dr med A Ovens-Raeder Dr med C Waldenmaier, Theodolindenstrasse 97, 81545 München, Germany, cCharité, Campus Virchow-Klinikum Institut für Humangenetik Molekulare Zytogenetik, Augustenburger Platz 1, 13353 Berlin, Germany, dKlinikum Rosenheim, Pettenkoferstrasse 10, 83022 Rosenheim, Germany
  1. Dr Weimer,Joerg.Weimer{at}t-online.de

Abstract

We report on a male patient and members of his family with additional material in chromosome 3. This derivative chromosome 3 was transmitted from his mother who had a complex rearrangement between chromosomes 2, 3, and 7. It was possible to delineate her chromosomal rearrangement by microdissection and reverse painting and to exclude these aberrations from being responsible for neonatal deaths and several abortions in this family. Two members of this family suffer from ectrodactyly or split hand/foot malformations (SHFM) of the feet which possibly correlates with the derivative chromosome 7 containing a breakpoint in the SHFM1 critical region involving several homeobox genes.

  • microdissection
  • CGH
  • SHFM
  • ectrodactyly

https://doi.org/10.1136/jmg.37.6.442

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