Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient

In this paper we present the detailed clinical and cytogenetic analysis of a prenatally detected complex Congenital Diaphragmatic Hernia (CDH) patient with a mosaic unbalanced translocation (5;12). High-resolution whole genome SNP array confirmed a low-level mosaicism (20%) in uncultured cells, unde...

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Detalles Bibliográficos
Autores principales: Veenma, Danielle, Beurskens, Niels, Douben, Hannie, Eussen, Bert, Noomen, Petra, Govaerts, Lutgarde, Grijseels, Els, Lequin, Maarten, de Krijger, Ronald, Tibboel, Dick, de Klein, Annelies, Van Opstal, Dian
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006223/
https://www.ncbi.nlm.nih.gov/pubmed/21203572
http://dx.doi.org/10.1371/journal.pone.0015348

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3006223/
https://www.ncbi.nlm.nih.gov/pubmed/21203572
http://dx.doi.org/10.1371/journal.pone.0015348

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