Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome
Background: Kabuki (Niikawa–Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition...
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| Veröffentlicht in: | Journal of medical genetics 2005-01, Vol.42 (1), p.49-53 |
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| creator | Hoffman, J D Zhang, Y Greshock, J Ciprero, K L Emanuel, B S Zackai, E H Weber, B L Ming, J E |
| description | Background: Kabuki (Niikawa–Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22–p23.1 in 13/13 patients. Objective: To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome. Methods: An 8p duplication was sought using two independent methods—array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)—in 15 patients with a definitive clinical diagnosis of Kabuki syndrome. Results: No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients. Conclusions: 8p22–p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients. |
| doi_str_mv | 10.1136/jmg.2004.024372 |
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Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22–p23.1 in 13/13 patients. Objective: To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome. Methods: An 8p duplication was sought using two independent methods—array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)—in 15 patients with a definitive clinical diagnosis of Kabuki syndrome. Results: No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients. Conclusions: 8p22–p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2004.024372</identifier><identifier>PMID: 15635075</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - genetics ; aCGH ; array based comparative genomic hybridisation ; Artificial chromosomes ; BAC ; bacterial artificial chromosome ; Biological and medical sciences ; Cardiology. Vascular system ; Child ; Children & youth ; Chromosomes, Artificial, Bacterial ; Chromosomes, Human, Pair 8 ; Cloning ; Cohort Studies ; Deoxyribonucleic acid ; DNA ; FISH ; fluorescence in situ hybridisation ; Gene Duplication ; General aspects. Genetic counseling ; Genomes ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual disabilities ; Intellectual Disability - genetics ; Kabuki syndrome ; Medical genetics ; Medical research ; Medical sciences ; Nucleic Acid Hybridization ; Patients ; Reproducibility of Results ; Short Report</subject><ispartof>Journal of medical genetics, 2005-01, Vol.42 (1), p.49-53</ispartof><rights>Copyright 2005 Journal of Medical Genetics</rights><rights>2005 INIST-CNRS</rights><rights>Copyright: 2005 Copyright 2005 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b553t-f79b5b51ebf2686e027ea20b8805432f9555b1694cda8848b5b13425372c43f53</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735911/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735911/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,4025,27927,27928,27929,53795,53797</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16451300$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15635075$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hoffman, J D</creatorcontrib><creatorcontrib>Zhang, Y</creatorcontrib><creatorcontrib>Greshock, J</creatorcontrib><creatorcontrib>Ciprero, K L</creatorcontrib><creatorcontrib>Emanuel, B S</creatorcontrib><creatorcontrib>Zackai, E H</creatorcontrib><creatorcontrib>Weber, B L</creatorcontrib><creatorcontrib>Ming, J E</creatorcontrib><title>Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Background: Kabuki (Niikawa–Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22–p23.1 in 13/13 patients. Objective: To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome. Methods: An 8p duplication was sought using two independent methods—array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)—in 15 patients with a definitive clinical diagnosis of Kabuki syndrome. Results: No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients. Conclusions: 8p22–p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients.</description><subject>Abnormalities, Multiple - genetics</subject><subject>aCGH</subject><subject>array based comparative genomic hybridisation</subject><subject>Artificial chromosomes</subject><subject>BAC</subject><subject>bacterial artificial chromosome</subject><subject>Biological and medical sciences</subject><subject>Cardiology. Vascular system</subject><subject>Child</subject><subject>Children & youth</subject><subject>Chromosomes, Artificial, Bacterial</subject><subject>Chromosomes, Human, Pair 8</subject><subject>Cloning</subject><subject>Cohort Studies</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>FISH</subject><subject>fluorescence in situ hybridisation</subject><subject>Gene Duplication</subject><subject>General aspects. Genetic counseling</subject><subject>Genomes</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - genetics</subject><subject>Kabuki syndrome</subject><subject>Medical genetics</subject><subject>Medical research</subject><subject>Medical sciences</subject><subject>Nucleic Acid Hybridization</subject><subject>Patients</subject><subject>Reproducibility of Results</subject><subject>Short Report</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqF0c9v0zAUB3ALgVgpnLkhSwgOSOn828ll0lRoOzEBEgWOlpPYm7skDnYC9L_HJdUGXHby4X387Pe-ADzHaIExFae79mpBEGILRBiV5AGYYSbyTBDGHoIZQoRkhBf0BDyJcYcQphKLx-AEc0E5knwG7HkIeg9LHU0Nl-sN1F0NVxefN9Bq18DBw8p31oUW1mPfuEoPznfQW5j3qXdP6AJD10Edo6_cVPzphmv4XpfjjYNx39XBt-YpeGR1E82z4zkHX1bvtstNdvlxfbE8v8xKzumQWVmUvOTYlJaIXBhEpNEElXmOOKPEFpzzEouCVbXOc5YnjCkjPI1eMWo5nYOzqW8_lq2pK9MNQTeqD67VYa-8durfSueu1ZX_obCkvEgrnYPXxwbBfx9NHFTrYmWaRnfGj1EJmd4T6H6IZY6RFCLBl__BnR9Dl7bwx-AUT86SOp1UFXyMwdjbP2OkDlGrFLU6RK2mqNONF3-PeueP2Sbw6gh0rHRjg-4qF--cYBxThJLLJufiYH7d1nW4OUwrufrwdanW29W37ae3VB0efjP5st3d-8vf2_LLAA</recordid><startdate>200501</startdate><enddate>200501</enddate><creator>Hoffman, J D</creator><creator>Zhang, Y</creator><creator>Greshock, J</creator><creator>Ciprero, K L</creator><creator>Emanuel, B S</creator><creator>Zackai, E H</creator><creator>Weber, B L</creator><creator>Ming, J E</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Group</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>200501</creationdate><title>Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome</title><author>Hoffman, J D ; Zhang, Y ; Greshock, J ; Ciprero, K L ; Emanuel, B S ; Zackai, E H ; Weber, B L ; Ming, J E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b553t-f79b5b51ebf2686e027ea20b8805432f9555b1694cda8848b5b13425372c43f53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>aCGH</topic><topic>array based comparative genomic hybridisation</topic><topic>Artificial chromosomes</topic><topic>BAC</topic><topic>bacterial artificial chromosome</topic><topic>Biological and medical sciences</topic><topic>Cardiology. Vascular system</topic><topic>Child</topic><topic>Children & youth</topic><topic>Chromosomes, Artificial, Bacterial</topic><topic>Chromosomes, Human, Pair 8</topic><topic>Cloning</topic><topic>Cohort Studies</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>FISH</topic><topic>fluorescence in situ hybridisation</topic><topic>Gene Duplication</topic><topic>General aspects. Genetic counseling</topic><topic>Genomes</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Kabuki syndrome</topic><topic>Medical genetics</topic><topic>Medical research</topic><topic>Medical sciences</topic><topic>Nucleic Acid Hybridization</topic><topic>Patients</topic><topic>Reproducibility of Results</topic><topic>Short Report</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hoffman, J D</creatorcontrib><creatorcontrib>Zhang, Y</creatorcontrib><creatorcontrib>Greshock, J</creatorcontrib><creatorcontrib>Ciprero, K L</creatorcontrib><creatorcontrib>Emanuel, B S</creatorcontrib><creatorcontrib>Zackai, E H</creatorcontrib><creatorcontrib>Weber, B L</creatorcontrib><creatorcontrib>Ming, J E</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hoffman, J D</au><au>Zhang, Y</au><au>Greshock, J</au><au>Ciprero, K L</au><au>Emanuel, B S</au><au>Zackai, E H</au><au>Weber, B L</au><au>Ming, J E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2005-01</date><risdate>2005</risdate><volume>42</volume><issue>1</issue><spage>49</spage><epage>53</epage><pages>49-53</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Background: Kabuki (Niikawa–Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22–p23.1 in 13/13 patients. Objective: To determine the frequency of an 8p duplication in a cohort of patients with Kabuki syndrome. Methods: An 8p duplication was sought using two independent methods—array based comparative genomic hybridisation (aCGH) and fluorescence in situ hybridisation (FISH)—in 15 patients with a definitive clinical diagnosis of Kabuki syndrome. Results: No evidence for a duplication of 8p was obtained by FISH or aCGH in any of the 15 patients. Conclusions: 8p22–p23.1 duplication may not be a common mechanism for Kabuki syndrome. Another genetic abnormality may be responsible for the aetiology in many patients.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>15635075</pmid><doi>10.1136/jmg.2004.024372</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Abnormalities, Multiple - genetics aCGH array based comparative genomic hybridisation Artificial chromosomes BAC bacterial artificial chromosome Biological and medical sciences Cardiology. Vascular system Child Children & youth Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 8 Cloning Cohort Studies Deoxyribonucleic acid DNA FISH fluorescence in situ hybridisation Gene Duplication General aspects. Genetic counseling Genomes Humans In Situ Hybridization, Fluorescence Intellectual disabilities Intellectual Disability - genetics Kabuki syndrome Medical genetics Medical research Medical sciences Nucleic Acid Hybridization Patients Reproducibility of Results Short Report |
| title | Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome |
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