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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 it...

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Detalles Bibliográficos
Autores principales: Robberecht, Caroline, Fryns, Jean-Pierre, Vermeesch, Joris Robert
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923739/
https://www.ncbi.nlm.nih.gov/pubmed/20670383
http://dx.doi.org/10.1186/gm168
Descripción
Sumario: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.