Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome |
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| Authors: | Hilde Van Esch Liesbeth Backx Elly Pijkels Jean-Pierre Fryns |
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| Institution: | 1. Save Sight Institute, Discipline of Ophthalmology, Sydney Eye Hospital Campus, The University of Sydney, Sydney, Australia;2. Department of Electrophysiology, Moorfields Eye Hospital and Institute of Ophthalmology, University College London, London, United Kingdom;3. Eye Genetics Research Group, The Children''s Hospital at Westmead, Children''s Medical Research Institute & Save Sight Institute, University of Sydney, Sydney, NSW, Australia;1. Servicio de Neuropediatría, Departamento de Pediatría, Hospital Clínico Universitario, Facultad de Medicina, Santiago de Compostela, Spain;2. Servicio de Anatomía Patológica, Hospital Clínico Universitario, Facultad de Medicina, Santiago de Compostela, Spain;3. Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), E-28041 Madrid, Spain;4. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041 Madrid, Spain;1. NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA;2. Neurogenetics Branch, NINDS, NIH, Bethesda, MD, USA;3. Department of Pediatrics and Neurology and the Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA;4. Office of the Clinical Director, NHGRI, NIH, Bethesda, MD, USA;5. Medical Genetics Branch, NHGRI, NIH, Bethesda, MD, USA;6. EMG Section, NINDS, NIH, Bethesda, MD, USA;7. NIH Intramural Sequencing Center, NHGRI, NIH, Bethesda, MD, USA;8. Comparative Genomics Unit, Genome Technology Branch, NHGRI, NIH, Bethesda, MD, USA;1. Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca'' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy;2. Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy;1. Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan;2. Institute of Human Genetics, University of Würzburg, Biocenter, 97047 Würzburg, Germany;3. Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany;4. Robinson Institute, The University of Adelaide, Adelaide, SA 5000, Australia;5. Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;6. Université François-Rabelais, 37032 Tours, France;7. Institut National de la Santé et de la Recherche Médicale Unité 930, 37032 Tours, France;8. Institute of Human Genetics, Westfälische Wilhelms Universität Münster, 48149 Münster, Germany;9. The Department of Neurology and Neurosurgery, The Children’s Hospital at Westmead, Sydney, NSW 2145, Australia;10. South Australian Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia;11. School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia;12. Institute of Neuropathology, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany;13. Neurogenetics, SA Pathology, Adelaide, SA 5000, Australia;14. University Paris Descartes, 75006 Paris, France;15. Institut National de la Santé et de la Recherche Médicale Unité 1016, Centre National de la Recherche Scientifique Unité Mixte de Recherche 8104, Institut Cochin, 75014 Paris, France;16. Department of Computational Biology, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany;17. Kinderklinik am Mönchberg, Kinderfachabteilung der Missionsärztlichen Klinik Würzburg, 97067 Würzburg, Germany;18. Department of Gynecology-Obstetrics, Cochin Hospital, Assistance Publique – Hôpitaux de Paris, 75014 Paris, France;19. Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA 99207, USA;20. Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA;21. Medical Genetics Institute and Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA;22. Medical Genetics and Neurodevelopmental Center, Peyton Manning St. Vincent Children’s Hospital, Indianapolis, IN 46260, USA;23. Department of Pediatrics and Clinical Genetics, Academic Medical Center, 1105 AZ Amsterdam, the Netherlands;24. Department of Medical Genetics, Centre Hospitalier Régional Universitaire, 37044 Tours, France |
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| Abstract: | The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective tissue, digital and genital anomalies and a distinct facial gestalt. Interestingly, in addition, this patient has a large congenital diaphragmatic hernia, as was described in one other patient with a 15q24 microdeletion, indicating that this feature might be part of the syndrome. Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome. |
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