Piecing together the problems in diagnosing low-level chromosomal mosaicism

Genome Med. 2010 Jul 29;2(7):47. doi: 10.1186/gm168.

Abstract

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.

Publication types

  • Editorial