Commentary
Piecing together the problems in diagnosing low-level chromosomal mosaicism
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* Corresponding author: Joris Robert Vermeesch Joris.Vermeesch@uz.kuleuven.ac.be
Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium
Genome Med 2010, 2:47 doi:10.1186/gm168
Published: 29 July 2010Abstract
Low-level somatic chromosomal mosaicism, which usually arises from post-zygotic errors, is a known cause of several well defined genetic syndromes and has been implicated in various multifactorial diseases. It is, however, not easy to diagnose, as various physical and technical factors complicate its identification.