Textbook of embryology for students of medicine
D.10 Educational activities
COBISS.SI-ID: 257991936Practical course material
D.10 Educational activities
COBISS.SI-ID: 4084287Development of microarray technologies had enable detection of submicroscopic genomic variability or copy number variations (CNV) and dramaticly changed our perspective of DNA structure and complexity of genetic diseases. Chromosomal microarray is increasingly utilizing for genetic testing of individuals with unexplained developmental delay, mental retardation and multiple congenital anomalies. In the Laboratory of medical genetics of UKC Maribor this technology was used to analyzed the children with developmental and/or mental delay and displastic features, CNVs were detected in 45% of them. 18% of CNV's were clinically significant, 5% were benign CNV's, and others were variants of uncertain clinical significance. The results confirm that chromosomal mycroarray is a first-trier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
F.17 Transfer of existing technologies, know-how, methods and procedures into practice
COBISS.SI-ID: 3895359