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Piecing together the problems in diagnosing low-level chromosomal mosaicism

Caroline Robberecht1, Jean-Pierre Fryns, Joris Robert Vermeesch

  • 1Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Caroline.Robberecht@med.kuleuven.be.

Genome Medicine
|July 31, 2010
PubMed
Summary

Low-level somatic chromosomal mosaicism, arising from post-zygotic errors, causes genetic syndromes and multifactorial diseases. Diagnosing this condition is challenging due to physical and technical complexities.

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