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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

Insights

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.

Area of Science:

  • Genetics
  • Cell Biology
  • Developmental Biology

Background:

  • Low-level somatic chromosomal mosaicism results from post-zygotic errors.
  • This condition is linked to genetic syndromes and multifactorial diseases.
  • Accurate diagnosis is often hindered by physical and technical challenges.

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