Gburek-Augustat J1 2 3, Schoene-Bake JC2 4, Bültmann E5, Haack T6, Buchert R6, Synofzik M7, Biskup S;8, Feuerhake F9, Sorge I10, Hartmann H2a
Abstract
New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.
- Division of Neuropediatrics, University Hospital, Hospital for Children and Adolescents, Leipzig, Germany.
- Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
- Department of Neuropediatrics, Developmental Neurology, Social Paediatrics, University Children’s Hospital Tuebingen, Tuebingen, Germany.
- Gemeinschaftspraxis fuer Humangenetik, Hamburg, Germany.
- Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
- Department of Medical Genetics and Applied Genomics, Rare Disease Center Tübingen, University of Tübingen, Tübingen, Germany.
- Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
- CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
- Institute for Pathology, Hannover Medical School, Hannover, Germany.
- Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Germany.