Dr. Christian Schaaf: Clinical and molecular characterization of 15q13.3 microdeletion syndrome

Dr. Christian Schaaf explains what the 15q13.3 microdeletion is, using a library of bookshelves to show how a piece of chromosome 15 can go missing, why this region is prone to deletions, and what it means when a deletion is de novo or inherited. He walks through how to read a genetic report, including breakpoints and deletion size. Speaker: Dr. Christian Schaaf, clinical geneticist, Institute of Human Genetics, University of Heidelberg. Chapters 0:00 Introduction: finding your community 3:28 Where Dr. Schaaf's 15q13.3 research began 5:12 Genetics 101: chromosomes as bookshelves 8:25 De novo or inherited 9:31 Breakpoints: why the deletion happens 13:30 How the deletion is diagnosed 15:11 How to read a genetic report 17:18 Deletion size, CHRNA7 and OTUD7A 19:22 International research on the 15q13.3 region 21:23 Gene dosage and the Goldilocks principle 25:02 Clinical features and how much they vary 28:32 Chances for future children Recorded at the Reed's Reach for 15q13.3 Family Conference and Research Symposium, October 3, 2026, Philadelphia. The talks are for education and are not medical advice for any individual. Please talk with your own doctors about your family's care. New to a 15q13.3 diagnosis? Start at reedsreach.org/about-15q