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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and molecular delineation of the 17q21.31 microdeletion syndrome</title><author><name sortKey="Koolen, D A" sort="Koolen, D A" uniqKey="Koolen D" first="D A" last="Koolen">D A Koolen</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Sharp, A J" sort="Sharp, A J" uniqKey="Sharp A" first="A J" last="Sharp">A J Sharp</name><affiliation><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3"> Department of Genetic Medicine and Development, University of Geneva Medical School CMU, Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Hurst, J A" sort="Hurst, J A" uniqKey="Hurst J" first="J A" last="Hurst">J A Hurst</name><affiliation><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Firth, H V" sort="Firth, H V" uniqKey="Firth H" first="H V" last="Firth">H V Firth</name><affiliation><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Knight, S J L" sort="Knight, S J L" uniqKey="Knight S" first="S J L" last="Knight">S J L. Knight</name><affiliation><nlm:aff id="A6"> Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name><affiliation><nlm:aff id="A7"> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Saugier Veber, P" sort="Saugier Veber, P" uniqKey="Saugier Veber P" first="P" last="Saugier-Veber">P. Saugier-Veber</name><affiliation><nlm:aff id="A7"> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Pfundt, R" sort="Pfundt, R" uniqKey="Pfundt R" first="R" last="Pfundt">R. Pfundt</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vissers, L E L M" sort="Vissers, L E L M" uniqKey="Vissers L" first="L E L M" last="Vissers">L E L M. Vissers</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destrée">A. Destrée</name><affiliation><nlm:aff id="A8"> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</nlm:aff></affiliation></author><author><name sortKey="Grisart, B" sort="Grisart, B" uniqKey="Grisart B" first="B" last="Grisart">B. Grisart</name><affiliation><nlm:aff id="A8"> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</nlm:aff></affiliation></author><author><name sortKey="Rooms, L" sort="Rooms, L" uniqKey="Rooms L" first="L" last="Rooms">L. Rooms</name><affiliation><nlm:aff id="A9"> Department of Medical Genetics, University of Antwerp, Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Aa, N Van Der" sort="Aa, N Van Der" uniqKey="Aa N" first="N Van Der" last="Aa">N Van Der Aa</name><affiliation><nlm:aff id="A10"> Antwerp University Hospital, Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name><affiliation><nlm:aff id="A11"> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Hackett, A" sort="Hackett, A" uniqKey="Hackett A" first="A" last="Hackett">A. Hackett</name><affiliation><nlm:aff id="A11"> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Bell, K" sort="Bell, K" uniqKey="Bell K" first="K" last="Bell">K. Bell</name><affiliation><nlm:aff id="A12"> Genetic Services, McMaster University Medical Centre, Hamilton, Canada</nlm:aff></affiliation></author><author><name sortKey="Nowaczyk, M J M" sort="Nowaczyk, M J M" uniqKey="Nowaczyk M" first="M J M" last="Nowaczyk">M J M. Nowaczyk</name><affiliation><nlm:aff id="A13"> Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Mancini, G M S" sort="Mancini, G M S" uniqKey="Mancini G" first="G M S" last="Mancini">G M S. Mancini</name><affiliation><nlm:aff id="A14"> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Poddighe, P J" sort="Poddighe, P J" uniqKey="Poddighe P" first="P J" last="Poddighe">P J Poddighe</name><affiliation><nlm:aff id="A14"> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schwartz, C E" sort="Schwartz, C E" uniqKey="Schwartz C" first="C E" last="Schwartz">C E Schwartz</name><affiliation><nlm:aff id="A15"> JC Self Research Institute, Greenwood Genetic Center, Greenwood, USA</nlm:aff></affiliation></author><author><name sortKey="Rossi, E" sort="Rossi, E" uniqKey="Rossi E" first="E" last="Rossi">E. Rossi</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="De Gregori, M" sort="De Gregori, M" uniqKey="De Gregori M" first="M" last="De Gregori">M. De Gregori</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Antonacci Fulton, L L" sort="Antonacci Fulton, L L" uniqKey="Antonacci Fulton L" first="L L" last="Antonacci-Fulton">L L Antonacci-Fulton</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Mclellan, M D" sort="Mclellan, M D" uniqKey="Mclellan M" first="M D" last="Mclellan">M D Mclellan</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Garrett, J M" sort="Garrett, J M" uniqKey="Garrett J" first="J M" last="Garrett">J M Garrett</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Wiechert, M A" sort="Wiechert, M A" uniqKey="Wiechert M" first="M A" last="Wiechert">M A Wiechert</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Miner, T L" sort="Miner, T L" uniqKey="Miner T" first="T L" last="Miner">T L Miner</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Crosby, S" sort="Crosby, S" uniqKey="Crosby S" first="S" last="Crosby">S. Crosby</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Ciccone, R" sort="Ciccone, R" uniqKey="Ciccone R" first="R" last="Ciccone">R. Ciccone</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Willatt, L" sort="Willatt, L" uniqKey="Willatt L" first="L" last="Willatt">L. Willatt</name><affiliation><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Rauch, A" sort="Rauch, A" uniqKey="Rauch A" first="A" last="Rauch">A. Rauch</name><affiliation><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff></affiliation></author><author><name sortKey="Zenker, M" sort="Zenker, M" uniqKey="Zenker M" first="M" last="Zenker">M. Zenker</name><affiliation><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff></affiliation></author><author><name sortKey="Aradhya, S" sort="Aradhya, S" uniqKey="Aradhya S" first="S" last="Aradhya">S. Aradhya</name><affiliation><nlm:aff id="A20"> Department of Pathology, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation></author><author><name sortKey="Manning, M A" sort="Manning, M A" uniqKey="Manning M" first="M A" last="Manning">M A Manning</name><affiliation><nlm:aff id="A21"> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation></author><author><name sortKey="Strom, T M" sort="Strom, T M" uniqKey="Strom T" first="T M" last="Strom">T M Strom</name><affiliation><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Wagenstaller, J" sort="Wagenstaller, J" uniqKey="Wagenstaller J" first="J" last="Wagenstaller">J. Wagenstaller</name><affiliation><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Krepischi Santos, A C" sort="Krepischi Santos, A C" uniqKey="Krepischi Santos A" first="A C" last="Krepischi-Santos">A C Krepischi-Santos</name><affiliation><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff></affiliation></author><author><name sortKey="Vianna Morgante, A M" sort="Vianna Morgante, A M" uniqKey="Vianna Morgante A" first="A M" last="Vianna-Morgante">A M Vianna-Morgante</name><affiliation><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff></affiliation></author><author><name sortKey="Rosenberg, C" sort="Rosenberg, C" uniqKey="Rosenberg C" first="C" last="Rosenberg">C. Rosenberg</name><affiliation><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff></affiliation></author><author><name sortKey="Price, S M" sort="Price, S M" uniqKey="Price S" first="S M" last="Price">S M Price</name><affiliation><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Stewart, H" sort="Stewart, H" uniqKey="Stewart H" first="H" last="Stewart">H. Stewart</name><affiliation><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Shaw Smith, C" sort="Shaw Smith, C" uniqKey="Shaw Smith C" first="C" last="Shaw-Smith">C. Shaw-Smith</name><affiliation><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Brunner, H G" sort="Brunner, H G" uniqKey="Brunner H" first="H G" last="Brunner">H G Brunner</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wilkie, A O M" sort="Wilkie, A O M" uniqKey="Wilkie A" first="A O M" last="Wilkie">A O M. Wilkie</name><affiliation><nlm:aff id="A24"> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Zuffardi, O" sort="Zuffardi, O" uniqKey="Zuffardi O" first="O" last="Zuffardi">O. Zuffardi</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A17"> Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Eichler, E E" sort="Eichler, E E" uniqKey="Eichler E" first="E E" last="Eichler">E E Eichler</name><affiliation><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A25"> Howard Hughes Medical Institute, Seattle, USA</nlm:aff></affiliation></author><author><name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">18628315</idno><idno type="pmc">3071570</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071570</idno><idno type="RBID">PMC:3071570</idno><idno type="doi">10.1136/jmg.2008.058701</idno><date when="2008">2008</date><idno type="wicri:Area/Pmc/Corpus">001448</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001448</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical and molecular delineation of the 17q21.31 microdeletion syndrome</title><author><name sortKey="Koolen, D A" sort="Koolen, D A" uniqKey="Koolen D" first="D A" last="Koolen">D A Koolen</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Sharp, A J" sort="Sharp, A J" uniqKey="Sharp A" first="A J" last="Sharp">A J Sharp</name><affiliation><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A3"> Department of Genetic Medicine and Development, University of Geneva Medical School CMU, Geneva, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Hurst, J A" sort="Hurst, J A" uniqKey="Hurst J" first="J A" last="Hurst">J A Hurst</name><affiliation><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Firth, H V" sort="Firth, H V" uniqKey="Firth H" first="H V" last="Firth">H V Firth</name><affiliation><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Knight, S J L" sort="Knight, S J L" uniqKey="Knight S" first="S J L" last="Knight">S J L. Knight</name><affiliation><nlm:aff id="A6"> Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name><affiliation><nlm:aff id="A7"> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Saugier Veber, P" sort="Saugier Veber, P" uniqKey="Saugier Veber P" first="P" last="Saugier-Veber">P. Saugier-Veber</name><affiliation><nlm:aff id="A7"> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Pfundt, R" sort="Pfundt, R" uniqKey="Pfundt R" first="R" last="Pfundt">R. Pfundt</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Vissers, L E L M" sort="Vissers, L E L M" uniqKey="Vissers L" first="L E L M" last="Vissers">L E L M. Vissers</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Destree, A" sort="Destree, A" uniqKey="Destree A" first="A" last="Destrée">A. Destrée</name><affiliation><nlm:aff id="A8"> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</nlm:aff></affiliation></author><author><name sortKey="Grisart, B" sort="Grisart, B" uniqKey="Grisart B" first="B" last="Grisart">B. Grisart</name><affiliation><nlm:aff id="A8"> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</nlm:aff></affiliation></author><author><name sortKey="Rooms, L" sort="Rooms, L" uniqKey="Rooms L" first="L" last="Rooms">L. Rooms</name><affiliation><nlm:aff id="A9"> Department of Medical Genetics, University of Antwerp, Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Aa, N Van Der" sort="Aa, N Van Der" uniqKey="Aa N" first="N Van Der" last="Aa">N Van Der Aa</name><affiliation><nlm:aff id="A10"> Antwerp University Hospital, Antwerp, Belgium</nlm:aff></affiliation></author><author><name sortKey="Field, M" sort="Field, M" uniqKey="Field M" first="M" last="Field">M. Field</name><affiliation><nlm:aff id="A11"> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Hackett, A" sort="Hackett, A" uniqKey="Hackett A" first="A" last="Hackett">A. Hackett</name><affiliation><nlm:aff id="A11"> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</nlm:aff></affiliation></author><author><name sortKey="Bell, K" sort="Bell, K" uniqKey="Bell K" first="K" last="Bell">K. Bell</name><affiliation><nlm:aff id="A12"> Genetic Services, McMaster University Medical Centre, Hamilton, Canada</nlm:aff></affiliation></author><author><name sortKey="Nowaczyk, M J M" sort="Nowaczyk, M J M" uniqKey="Nowaczyk M" first="M J M" last="Nowaczyk">M J M. Nowaczyk</name><affiliation><nlm:aff id="A13"> Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada</nlm:aff></affiliation></author><author><name sortKey="Mancini, G M S" sort="Mancini, G M S" uniqKey="Mancini G" first="G M S" last="Mancini">G M S. Mancini</name><affiliation><nlm:aff id="A14"> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Poddighe, P J" sort="Poddighe, P J" uniqKey="Poddighe P" first="P J" last="Poddighe">P J Poddighe</name><affiliation><nlm:aff id="A14"> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Schwartz, C E" sort="Schwartz, C E" uniqKey="Schwartz C" first="C E" last="Schwartz">C E Schwartz</name><affiliation><nlm:aff id="A15"> JC Self Research Institute, Greenwood Genetic Center, Greenwood, USA</nlm:aff></affiliation></author><author><name sortKey="Rossi, E" sort="Rossi, E" uniqKey="Rossi E" first="E" last="Rossi">E. Rossi</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="De Gregori, M" sort="De Gregori, M" uniqKey="De Gregori M" first="M" last="De Gregori">M. De Gregori</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Antonacci Fulton, L L" sort="Antonacci Fulton, L L" uniqKey="Antonacci Fulton L" first="L L" last="Antonacci-Fulton">L L Antonacci-Fulton</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Mclellan, M D" sort="Mclellan, M D" uniqKey="Mclellan M" first="M D" last="Mclellan">M D Mclellan</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Garrett, J M" sort="Garrett, J M" uniqKey="Garrett J" first="J M" last="Garrett">J M Garrett</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Wiechert, M A" sort="Wiechert, M A" uniqKey="Wiechert M" first="M A" last="Wiechert">M A Wiechert</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Miner, T L" sort="Miner, T L" uniqKey="Miner T" first="T L" last="Miner">T L Miner</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Crosby, S" sort="Crosby, S" uniqKey="Crosby S" first="S" last="Crosby">S. Crosby</name><affiliation><nlm:aff id="A18"> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</nlm:aff></affiliation></author><author><name sortKey="Ciccone, R" sort="Ciccone, R" uniqKey="Ciccone R" first="R" last="Ciccone">R. Ciccone</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Willatt, L" sort="Willatt, L" uniqKey="Willatt L" first="L" last="Willatt">L. Willatt</name><affiliation><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Rauch, A" sort="Rauch, A" uniqKey="Rauch A" first="A" last="Rauch">A. Rauch</name><affiliation><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff></affiliation></author><author><name sortKey="Zenker, M" sort="Zenker, M" uniqKey="Zenker M" first="M" last="Zenker">M. Zenker</name><affiliation><nlm:aff id="A19"> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</nlm:aff></affiliation></author><author><name sortKey="Aradhya, S" sort="Aradhya, S" uniqKey="Aradhya S" first="S" last="Aradhya">S. Aradhya</name><affiliation><nlm:aff id="A20"> Department of Pathology, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation></author><author><name sortKey="Manning, M A" sort="Manning, M A" uniqKey="Manning M" first="M A" last="Manning">M A Manning</name><affiliation><nlm:aff id="A21"> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA</nlm:aff></affiliation></author><author><name sortKey="Strom, T M" sort="Strom, T M" uniqKey="Strom T" first="T M" last="Strom">T M Strom</name><affiliation><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Wagenstaller, J" sort="Wagenstaller, J" uniqKey="Wagenstaller J" first="J" last="Wagenstaller">J. Wagenstaller</name><affiliation><nlm:aff id="A22"> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</nlm:aff></affiliation></author><author><name sortKey="Krepischi Santos, A C" sort="Krepischi Santos, A C" uniqKey="Krepischi Santos A" first="A C" last="Krepischi-Santos">A C Krepischi-Santos</name><affiliation><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff></affiliation></author><author><name sortKey="Vianna Morgante, A M" sort="Vianna Morgante, A M" uniqKey="Vianna Morgante A" first="A M" last="Vianna-Morgante">A M Vianna-Morgante</name><affiliation><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff></affiliation></author><author><name sortKey="Rosenberg, C" sort="Rosenberg, C" uniqKey="Rosenberg C" first="C" last="Rosenberg">C. Rosenberg</name><affiliation><nlm:aff id="A23"> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</nlm:aff></affiliation></author><author><name sortKey="Price, S M" sort="Price, S M" uniqKey="Price S" first="S M" last="Price">S M Price</name><affiliation><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Stewart, H" sort="Stewart, H" uniqKey="Stewart H" first="H" last="Stewart">H. Stewart</name><affiliation><nlm:aff id="A4"> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Shaw Smith, C" sort="Shaw Smith, C" uniqKey="Shaw Smith C" first="C" last="Shaw-Smith">C. Shaw-Smith</name><affiliation><nlm:aff id="A5"> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</nlm:aff></affiliation></author><author><name sortKey="Brunner, H G" sort="Brunner, H G" uniqKey="Brunner H" first="H G" last="Brunner">H G Brunner</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Wilkie, A O M" sort="Wilkie, A O M" uniqKey="Wilkie A" first="A O M" last="Wilkie">A O M. Wilkie</name><affiliation><nlm:aff id="A24"> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK</nlm:aff></affiliation></author><author><name sortKey="Veltman, J A" sort="Veltman, J A" uniqKey="Veltman J" first="J A" last="Veltman">J A Veltman</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Zuffardi, O" sort="Zuffardi, O" uniqKey="Zuffardi O" first="O" last="Zuffardi">O. Zuffardi</name><affiliation><nlm:aff id="A16"> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="A17"> Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</nlm:aff></affiliation></author><author><name sortKey="Eichler, E E" sort="Eichler, E E" uniqKey="Eichler E" first="E E" last="Eichler">E E Eichler</name><affiliation><nlm:aff id="A2"> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A25"> Howard Hughes Medical Institute, Seattle, USA</nlm:aff></affiliation></author><author><name sortKey="De Vries, B B A" sort="De Vries, B B A" uniqKey="De Vries B" first="B B A" last="De Vries">B B A. De Vries</name><affiliation><nlm:aff id="A1"> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</nlm:aff></affiliation></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2008">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title><p id="P1">The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.</p></sec><sec id="S2"><title>Aim</title><p id="P2">We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.</p></sec><sec id="S3"><title>Results</title><p id="P3">We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729–41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (<italic>MAPT</italic>). Mutation screening of <italic>MAPT</italic> in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p<10<sup>–5</sup>).</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.</p></sec></div></front></TEI><pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">2985087R</journal-id><journal-id journal-id-type="pubmed-jr-id">4945</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of medical genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">18628315</article-id><article-id pub-id-type="pmc">3071570</article-id><article-id pub-id-type="doi">10.1136/jmg.2008.058701</article-id><article-id pub-id-type="manuscript">NIHMS264035</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Clinical and molecular delineation of the 17q21.31 microdeletion syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Koolen</surname><given-names>D A</given-names></name><xref ref-type="aff" 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contrib-type="author"><name><surname>Rossi</surname><given-names>E</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>De Gregori</surname><given-names>M</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Antonacci-Fulton</surname><given-names>L L</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>McLellan</surname><given-names>M D</given-names><suffix>II</suffix></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Garrett</surname><given-names>J M</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Wiechert</surname><given-names>M A</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Miner</surname><given-names>T L</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Crosby</surname><given-names>S</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Ciccone</surname><given-names>R</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Willatt</surname><given-names>L</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Rauch</surname><given-names>A</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Zenker</surname><given-names>M</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Aradhya</surname><given-names>S</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Manning</surname><given-names>M A</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Strom</surname><given-names>T M</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Wagenstaller</surname><given-names>J</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Krepischi-Santos</surname><given-names>A C</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Vianna-Morgante</surname><given-names>A M</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Rosenberg</surname><given-names>C</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Price</surname><given-names>S M</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Stewart</surname><given-names>H</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Shaw-Smith</surname><given-names>C</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Brunner</surname><given-names>H G</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Wilkie</surname><given-names>A O M</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Veltman</surname><given-names>J A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Zuffardi</surname><given-names>O</given-names></name><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Eichler</surname><given-names>E E</given-names></name><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>de Vries</surname><given-names>B B A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label> Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands</aff><aff id="A2"><label>2</label> Department of Genome Sciences, University of Washington School of Medicine, Seattle, USA</aff><aff id="A3"><label>3</label> Department of Genetic Medicine and Development, University of Geneva Medical School CMU, Geneva, Switzerland</aff><aff id="A4"><label>4</label> Department of Clinical Genetics, Oxford Radcliffe Hospitals National Health Service (NHS) Trust, Churchill Hospital, Oxford, UK</aff><aff id="A5"><label>5</label> Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK</aff><aff id="A6"><label>6</label> Oxford Genetics Knowledge Park, The Wellcome Trust Centre for Human Genetics, Churchill Hospital, Oxford, UK</aff><aff id="A7"><label>7</label> Department of Genetics, Rouen University Hospital, & Inserm U614, Institute for Biomedical research, University of Rouen, Rouen, France</aff><aff id="A8"><label>8</label> Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium</aff><aff id="A9"><label>9</label> Department of Medical Genetics, University of Antwerp, Antwerp, Belgium</aff><aff id="A10"><label>10</label> Antwerp University Hospital, Antwerp, Belgium</aff><aff id="A11"><label>11</label> Hunter Genetics, Hunter New England Area Health Service, Newcastle, NSW, Australia</aff><aff id="A12"><label>12</label> Genetic Services, McMaster University Medical Centre, Hamilton, Canada</aff><aff id="A13"><label>13</label> Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada</aff><aff id="A14"><label>14</label> Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</aff><aff id="A15"><label>15</label> JC Self Research Institute, Greenwood Genetic Center, Greenwood, USA</aff><aff id="A16"><label>16</label> Biologia Generale e Genetica Medica, Università di Pavia, Pavia, Italy</aff><aff id="A17"><label>17</label> Fondazione IRCCS Policlinico San Matteo, Pavia, Italy</aff><aff id="A18"><label>18</label> Genome Sequencing Center, Washington University School of Medicine, St. Louis, MO, USA</aff><aff id="A19"><label>19</label> Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany</aff><aff id="A20"><label>20</label> Department of Pathology, Stanford University School of Medicine, Stanford, California, USA</aff><aff id="A21"><label>21</label> Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA</aff><aff id="A22"><label>22</label> Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich-Neuherberg, Germany</aff><aff id="A23"><label>23</label> Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brasil</aff><aff id="A24"><label>24</label> Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK</aff><aff id="A25"><label>25</label> Howard Hughes Medical Institute, Seattle, USA</aff><author-notes><corresp id="CR1">Correspondence to: Dr B B A de Vries, Department of Human Genetics 849, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands; <email>B.deVries@antrg.umcn.nl</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>12</day><month>1</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>15</day><month>7</month><year>2008</year></pub-date><pub-date pub-type="ppub"><month>11</month><year>2008</year></pub-date><pub-date pub-type="pmc-release"><day>6</day><month>4</month><year>2011</year></pub-date><volume>45</volume><issue>11</issue><fpage>710</fpage><lpage>720</lpage><abstract><sec id="S1"><title>Background</title><p id="P1">The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation.</p></sec><sec id="S2"><title>Aim</title><p id="P2">We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome.</p></sec><sec id="S3"><title>Results</title><p id="P3">We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729–41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (<italic>MAPT</italic>). Mutation screening of <italic>MAPT</italic> in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p<10<sup>–5</sup>).</p></sec><sec id="S4"><title>Conclusion</title><p id="P4">Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.</p></sec></abstract><contract-num rid="HD1">R01 HD043569-06
||HD</contract-num><contract-num rid="HHMI_4">HHMI_EICHLER_E
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