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A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype
Authors:Tuva Barøy  Doriana Misceo  Øivind Braaten  Johan R Helle  Madeleine Fannemel  Petter Strømme  Eirik Frengen
Institution:1. Institute of Medical Genetics, Faculty of Medicine, University of Oslo, Norway;2. Department of Medical Genetics, Oslo University Hospital, Ullevål, Norway;3. Department of Pediatrics, Oslo University Hospital, Ullevål, Norway;4. Faculty of Medicine, University of Oslo, Norway;1. Department of Hepato-Biliary-Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan;2. Department of Bioinformatics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan;1. Institute of Higher Nervous Activity and Neurophysiology Russian Academy of Sciences, Moscow, Russia;2. Burdenko Neurosurgery Institute, Moscow, Russia;1. Centre de Recherche sur la Paléobiodiversité et les Paléoenvironnements (CR2P, UMR 7207), Muséum national d’Histoire naturelle, Sorbonne Universités, MNHN, UPMC, CNRS, 57, rue Cuvier, 75005 Paris, France;2. Normandie Université, UNICAEN, CNRS, M2C, 14000 Caen, France;1. AP-HP, Service d''Histologie, Embryologie et Cytogénétique, Hôpital Antoine Béclère, Clamart, France;2. Faculté de Médecine Paris Sud, Le Kremlin Bicêtre, France;3. AP-HP, Département de Génétique, CHU Robert Debré, Paris, France;4. AP-HP, Service de Biochimie-Génétique, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France;5. INSERM U955, Plateforme de Génétique Constitutionnelle, Hôpital H. Mondor, Créteil, France;6. AP-HP, Département de Neuropédiatrie, CHU Robert Debré, Paris, France;7. AP-HP, Gynécologie Obstétrique, Hôpital Antoine Béclère, Clamart, France;1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;2. Texas Children’s Hospital, Houston, Texas;3. Cancer Genetics, UT Southwestern Medical Center, Dallas, Texas;4. Ambry Genetics, Aliso Viejo, California;5. Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas
Abstract:We report on a 11-year-old boy investigated for a clinical suspicion of Angelman syndrome (AS) (OMIM 105830) who was found to carry a de novo interstitial deletion of chromosome 15q13.2q13.3. The deletion overlaps the critical region for the newly recognized recurrent 15q13.3 deletion syndrome. This is the first report of a patient with 15q13.3 deletion syndrome with clinical features similar to that of AS, thus broadening the phenotypic spectrum associated with the 15q13.3 microdeletion syndrome.
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