JCN Open Access Delayed Diagnosis of Chromosome 22q11.2 Deletion Syndrome Due to Late-Onset Generalized Epilepsy Dear Editor, A 36-year-old man presented with the sudden

Avhandling Grinde.pdfDina Mikhailovna Aresvik Faculty of Medicine UNIVERSITY OF OSLO © Dina Mikhailovna Aresvik, 2020 Series of dissertations submitted to the Faculty

22q11.2 deletion syndrome22q11.2 deletion syndrome Description 22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by

DiGeorge syndromeHistory • Velocardiofacial syndrome Epidemiology • DiGeorge syndrome affects one in 2000-4000 live births. • Probably underdiagnosed due to

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of

CGR844.inddOriginal Article Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH D.C. Bittel a S. Yu a H. Newkirk b N. Kibiryeva a A. Holt III a M.G. Butler