Article
Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient.
PloS one - 21 Dec 2010
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
Abstract excerpt
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, underlining the value of array technology for identification studies. Subsequently, targeted Fluorescence In-Situ...
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