Piecing together the problems in diagnosing low-level chromosomal mosaicism.
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.
Robberecht
Caroline
C
Center for Human Genetics, University Hospital Gasthuisberg, Catholic University of Leuven, Herestraat 49, 3000 Leuven, Belgium. Caroline.Robberecht@med.kuleuven.be.
Fryns
Jean-Pierre
JP
Vermeesch
Joris Robert
JR