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...

Descripción completa

Detalles Bibliográficos
Autores principales: Robberecht, Caroline, Fryns, Jean-Pierre, Vermeesch, Joris Robert
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Commentary
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
_version_ 1782185537411481600
author Robberecht, Caroline
Fryns, Jean-Pierre
Vermeesch, Joris Robert
author_facet Robberecht, Caroline
Fryns, Jean-Pierre
Vermeesch, Joris Robert
author_sort Robberecht, Caroline
collection PubMed
description 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.
format Text
id pubmed-2923739
institution National Center for Biotechnology Information
language English
publishDate 2010
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-29237392011-07-29 Piecing together the problems in diagnosing low-level chromosomal mosaicism Robberecht, Caroline Fryns, Jean-Pierre Vermeesch, Joris Robert Genome Med Commentary 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. BioMed Central 2010-07-29 /pmc/articles/PMC2923739/ /pubmed/20670383 http://dx.doi.org/10.1186/gm168 Text en Copyright ©2010 BioMed Central Ltd
spellingShingle Commentary
Robberecht, Caroline
Fryns, Jean-Pierre
Vermeesch, Joris Robert
Piecing together the problems in diagnosing low-level chromosomal mosaicism
title Piecing together the problems in diagnosing low-level chromosomal mosaicism
title_full Piecing together the problems in diagnosing low-level chromosomal mosaicism
title_fullStr Piecing together the problems in diagnosing low-level chromosomal mosaicism
title_full_unstemmed Piecing together the problems in diagnosing low-level chromosomal mosaicism
title_short Piecing together the problems in diagnosing low-level chromosomal mosaicism
title_sort piecing together the problems in diagnosing low-level chromosomal mosaicism
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923739/
https://www.ncbi.nlm.nih.gov/pubmed/20670383
http://dx.doi.org/10.1186/gm168
work_keys_str_mv AT robberechtcaroline piecingtogethertheproblemsindiagnosinglowlevelchromosomalmosaicism
AT frynsjeanpierre piecingtogethertheproblemsindiagnosinglowlevelchromosomalmosaicism
AT vermeeschjorisrobert piecingtogethertheproblemsindiagnosinglowlevelchromosomalmosaicism

Ejemplares similares