comparable low-level mosaicism in affected and non affected tissue of a complex cdh patient比较低级的镶嵌性影响的影响和非组织复杂的鼎晖的病人.pdf

Comparable Low-Level Mosaicism in Affected and Non Affected Tissue of a Complex CDH Patient 1,2 1 2 2 2 Danielle Veenma *, Niels Beurskens , Hannie Douben , Bert Eussen , Petra Noomen , Lutgarde 2 3 4 5 1 2 Govaerts , Els Grijseels , Maarten Lequin , Ronald de Krijger , Dick Tibboel , Annelies de Klein , Dian Van Opstal2 1 Department of Pediatric Surgery, Erasmus-MC Sophia, Rotterdam, The Netherlands, 2 Department of Clinical Genetics, Erasmus-MC Sophia, Rotterdam, The Netherlands, 3 Department of Obstetrics and Gynaecology, Erasmus-MC Sophia, Rotterdam, The Netherlands, 4 Department of Radiology, Erasmus-MC Sophia, Rotterdam, The Netherlands, 5 Department of Pathology, Erasmus-MC Sophia, Rotterdam, The Netherlands Abstract 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 Hybridization in postmortem collected tissues demonstrated a similar low-level mosaicism, independently of the affected status of the tissue. Thus, a higher incidence of the genetic aberration in affected organs as lung and diaphragm cannot explain the severe phenotype of this complex CDH patient. Comparison with other described chromosome 5p and 12p anomalies indicated that half of the features presented in our patient (including the diaphr