Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Identifieur interne : 009367 ( Main/Exploration ); précédent : 009366; suivant : 009368Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Auteurs : Ludmila Kousoulidou [Chypre (pays)] ; Sven Parkel [Estonie] ; Olga Zilina [Estonie] ; Priit Palta [Estonie] ; Helen Puusepp [Estonie] ; Maido Remm [Estonie] ; Gillian Tumer [Australie] ; Jackie Boyle [Australie] ; Hans Van Bokhoven [Pays-Bas] ; Arjan De Brouwer [Pays-Bas] ; Hilde Van Esch [Belgique] ; Guy Froyen [Belgique] ; Hans-Hilger Ropers [Allemagne] ; Jamel Chelly [France] ; Claude Moraine [France] ; Jozef Gecz [Australie] ; Ants Kurg [Estonie] ; Philippos C. Patsalis [Chypre (pays)]Source :
- European journal of medical genetics [ 1769-7212 ] ; 2007.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
Abstract
The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with X-linked mental retardation (XLMR) using a chromosome X-specific array-MAPH platform with median resolution of 238 kb. Among the 20 families, 18 were experimental, as they were not previously screened with any microarray method, and two were blind controls with known aberrations, as they were previously screened by array-CGH. This study presents the first clinical application of chromosome X-specific array-MAPH methodology. The screening of 20 affected males from 20 unrelated XLMR families resulted in the detection of an unknown deletion, spanning a region of 7-23 kb. Family studies and population screening demonstrated that the detected deletion is an unknown rare copy number variant. One of the control samples, carrying approximately 6-Mb duplication was correctly identified, moreover it was found to be interrupted by a previously unknown 19 kb region of normal copy number. The second control 50 kb deletion was not identified, as this particular region was not covered by array-MAPH probes. This study demonstrates that the chromosome X-specific array-MAPH platform is a valuable tool for screening patients with XLMR, or other X-linked disorders, and emerges the need for introducing new high-resolution screening methods for the detection of genetic imbalances.
Affiliations:
- Allemagne, Australie, Belgique, Chypre (pays), Estonie, France, Pays-Bas
- Berlin, Centre-Val de Loire, Gueldre, Région Centre, Île-de-France
- Berlin, Nimègue, Paris, Tours
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH</title><author><name sortKey="Kousoulidou, Ludmila" sort="Kousoulidou, Ludmila" uniqKey="Kousoulidou L" first="Ludmila" last="Kousoulidou">Ludmila Kousoulidou</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, PO Box 23462</s1><s2>1683 Nicosia</s2><s3>CYP</s3><sZ>1 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Chypre (pays)</country><wicri:noRegion>1683 Nicosia</wicri:noRegion></affiliation></author><author><name sortKey="Parkel, Sven" sort="Parkel, Sven" uniqKey="Parkel S" first="Sven" last="Parkel">Sven Parkel</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 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aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Puusepp, Helen" sort="Puusepp, Helen" uniqKey="Puusepp H" first="Helen" last="Puusepp">Helen Puusepp</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Remm, Maido" sort="Remm, Maido" uniqKey="Remm M" first="Maido" last="Remm">Maido Remm</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Tumer, Gillian" sort="Tumer, Gillian" uniqKey="Tumer G" first="Gillian" last="Tumer">Gillian Tumer</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Brouwer, Arjan" sort="De Brouwer, Arjan" uniqKey="De Brouwer A" first="Arjan" last="De Brouwer">Arjan De Brouwer</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Centre for Human Genetics, University Hospital Gasthuisberg</s1><s2>Leuven</s2><s3>BEL</s3><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Human Genome Laboratory, Dept. Molecular and Developmental Genetics, VIB, and Dept. Human Genetics, KU Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>12 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Max Planck Institute for Molecular Genetics, Human Molecular Genetics Department</s1><s2>Berlin</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>INSERM U129-ICGM, Faculte de Medecine Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Centre Hospitalier Universitaire de Tours, Service de Genetique, Hospital Bretoneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>15 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Kurg, Ants" sort="Kurg, Ants" uniqKey="Kurg A" first="Ants" last="Kurg">Ants Kurg</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Patsalis, Philippos C" sort="Patsalis, Philippos C" uniqKey="Patsalis P" first="Philippos C." last="Patsalis">Philippos C. Patsalis</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, PO Box 23462</s1><s2>1683 Nicosia</s2><s3>CYP</s3><sZ>1 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Chypre (pays)</country><wicri:noRegion>1683 Nicosia</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">08-0099713</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 08-0099713 INIST</idno><idno type="RBID">Pascal:08-0099713</idno><idno type="wicri:Area/PascalFrancis/Corpus">003745</idno><idno type="stanalyst">FRANCIS 08-0099713 INIST</idno><idno type="wicri:Area/PascalFrancis/Corpus">003875</idno><idno type="wicri:Area/PascalFrancis/Curation">002894</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">003649</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">003649</idno><idno 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last="Parkel">Sven Parkel</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Zilina, Olga" sort="Zilina, Olga" uniqKey="Zilina O" first="Olga" last="Zilina">Olga Zilina</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Palta, Priit" sort="Palta, Priit" uniqKey="Palta P" first="Priit" last="Palta">Priit Palta</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Puusepp, Helen" sort="Puusepp, Helen" uniqKey="Puusepp H" first="Helen" last="Puusepp">Helen Puusepp</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Remm, Maido" sort="Remm, Maido" uniqKey="Remm M" first="Maido" last="Remm">Maido Remm</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Tumer, Gillian" sort="Tumer, Gillian" uniqKey="Tumer G" first="Gillian" last="Tumer">Gillian Tumer</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="De Brouwer, Arjan" sort="De Brouwer, Arjan" uniqKey="De Brouwer A" first="Arjan" last="De Brouwer">Arjan De Brouwer</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Centre</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Centre for Human Genetics, University Hospital Gasthuisberg</s1><s2>Leuven</s2><s3>BEL</s3><sZ>11 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Human Genome Laboratory, Dept. Molecular and Developmental Genetics, VIB, and Dept. Human Genetics, KU Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>12 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Max Planck Institute for Molecular Genetics, Human Molecular Genetics Department</s1><s2>Berlin</s2><s3>DEU</s3><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>INSERM U129-ICGM, Faculte de Medecine Cochin</s1><s2>Paris</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Centre Hospitalier Universitaire de Tours, Service de Genetique, Hospital Bretoneau</s1><s2>Tours</s2><s3>FRA</s3><sZ>15 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Kurg, Ants" sort="Kurg, Ants" uniqKey="Kurg A" first="Ants" last="Kurg">Ants Kurg</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Molecular and Cell Biology, University of Taqu/Estonia Biocentre</s1><s2>Tartu</s2><s3>EST</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Estonie</country><wicri:noRegion>Tartu</wicri:noRegion></affiliation></author><author><name sortKey="Patsalis, Philippos C" sort="Patsalis, Philippos C" uniqKey="Patsalis P" first="Philippos C." last="Patsalis">Philippos C. Patsalis</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Cytogenetics, The Cyprus Institute of Neurology and Genetics, PO Box 23462</s1><s2>1683 Nicosia</s2><s3>CYP</s3><sZ>1 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Chypre (pays)</country><wicri:noRegion>1683 Nicosia</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">European journal of medical genetics </title><title level="j" type="abbreviated">Eur. J. med. genet. </title><idno type="ISSN">1769-7212</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">European journal of medical genetics </title><title level="j" type="abbreviated">Eur. J. med. genet. </title><idno type="ISSN">1769-7212</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Complex syndrome</term><term>Copy number</term><term>Genetic disease</term><term>Genetics</term><term>Human</term><term>Medical screening</term><term>Mental retardation</term><term>Patient</term><term>Screening</term><term>Sex linked character</term><term>Variations</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Arriération mentale</term><term>Syndrome complexe</term><term>Dépistage</term><term>Criblage</term><term>Homme</term><term>Malade</term><term>Maladie héréditaire</term><term>Chromosome X</term><term>Caractère lié au sexe</term><term>Nombre copie</term><term>Variation</term><term>Génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The rapid advancement of high-resolution DNA copy number assessment methods revealed the significant contribution of submicroscopic genetic imbalances to abnormal phenotypes, including mental retardation. In order to detect submicroscopic genetic imbalances, we have screened 20 families with X-linked mental retardation (XLMR) using a chromosome X-specific array-MAPH platform with median resolution of 238 kb. Among the 20 families, 18 were experimental, as they were not previously screened with any microarray method, and two were blind controls with known aberrations, as they were previously screened by array-CGH. This study presents the first clinical application of chromosome X-specific array-MAPH methodology. The screening of 20 affected males from 20 unrelated XLMR families resulted in the detection of an unknown deletion, spanning a region of 7-23 kb. Family studies and population screening demonstrated that the detected deletion is an unknown rare copy number variant. One of the control samples, carrying approximately 6-Mb duplication was correctly identified, moreover it was found to be interrupted by a previously unknown 19 kb region of normal copy number. The second control 50 kb deletion was not identified, as this particular region was not covered by array-MAPH probes. This study demonstrates that the chromosome X-specific array-MAPH platform is a valuable tool for screening patients with XLMR, or other X-linked disorders, and emerges the need for introducing new high-resolution screening methods for the detection of genetic imbalances.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Chypre (pays)</li><li>Estonie</li><li>France</li><li>Pays-Bas</li></country><region><li>Berlin</li><li>Centre-Val de Loire</li><li>Gueldre</li><li>Région Centre</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Nimègue</li><li>Paris</li><li>Tours</li></settlement></list><tree><country name="Chypre (pays)"><noRegion><name sortKey="Kousoulidou, Ludmila" sort="Kousoulidou, Ludmila" uniqKey="Kousoulidou L" first="Ludmila" last="Kousoulidou">Ludmila Kousoulidou</name></noRegion><name sortKey="Patsalis, Philippos C" sort="Patsalis, Philippos C" uniqKey="Patsalis P" first="Philippos C." last="Patsalis">Philippos C. Patsalis</name></country><country name="Estonie"><noRegion><name sortKey="Parkel, Sven" sort="Parkel, Sven" uniqKey="Parkel S" first="Sven" last="Parkel">Sven Parkel</name></noRegion><name sortKey="Kurg, Ants" sort="Kurg, Ants" uniqKey="Kurg A" first="Ants" last="Kurg">Ants Kurg</name><name sortKey="Palta, Priit" sort="Palta, Priit" uniqKey="Palta P" first="Priit" last="Palta">Priit Palta</name><name sortKey="Puusepp, Helen" sort="Puusepp, Helen" uniqKey="Puusepp H" first="Helen" last="Puusepp">Helen Puusepp</name><name sortKey="Remm, Maido" sort="Remm, Maido" uniqKey="Remm M" first="Maido" last="Remm">Maido Remm</name><name sortKey="Zilina, Olga" sort="Zilina, Olga" uniqKey="Zilina O" first="Olga" last="Zilina">Olga Zilina</name></country><country name="Australie"><noRegion><name sortKey="Tumer, Gillian" sort="Tumer, Gillian" uniqKey="Tumer G" first="Gillian" last="Tumer">Gillian Tumer</name></noRegion><name sortKey="Boyle, Jackie" sort="Boyle, Jackie" uniqKey="Boyle J" first="Jackie" last="Boyle">Jackie Boyle</name><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name></region><name sortKey="De Brouwer, Arjan" sort="De Brouwer, Arjan" uniqKey="De Brouwer A" first="Arjan" last="De Brouwer">Arjan De Brouwer</name></country><country name="Belgique"><noRegion><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name></noRegion><name sortKey="Froyen, Guy" sort="Froyen, Guy" uniqKey="Froyen G" first="Guy" last="Froyen">Guy Froyen</name></country><country name="Allemagne"><region name="Berlin"><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name></region></country><country name="France"><region name="Île-de-France"><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name></region><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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