Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 pr...
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| Veröffentlicht in: | Journal of medical genetics 2002-04, Vol.39 (4), p.266-270 |
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| creator | Rio, M Molinari, F Heuertz, S Ozilou, C Gosset, P Raoul, O Cormier-Daire, V Amiel, J Lyonnet, S Le Merrer, M Turleau, C de Blois, M-C Prieur, M Romana, S Vekemans, M Munnich, A Colleaux, L |
| description | Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation. |
| doi_str_mv | 10.1136/jmg.39.4.266 |
| format | Article |
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Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.39.4.266</identifier><identifier>PMID: 11950856</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Automation ; Biological and medical sciences ; CGH ; Child ; Children & youth ; Chromosome aberrations ; Chromosome Deletion ; Chromosome Mapping ; Chromosome Mapping - economics ; Chromosome Mapping - methods ; Chromosome Segregation ; Chromosome Segregation - genetics ; Chromosomes ; comparative genomic hybridisation ; degenerate oligonucleotide primed polymerase chain reaction ; Diagnosis ; DOP-PCR ; Families & family life ; Female ; FISH ; fluorescence in situ hybridisation ; Fluorescent Dyes ; fluorescent genotyping ; Gene Duplication ; Gene Rearrangement ; Gene Rearrangement - genetics ; Genetic aspects ; Genetic disorders ; Genetic Testing ; Genetic Testing - methods ; Genetics ; Genomes ; Genotype ; Human genetics ; Humans ; In Situ Hybridization, Fluorescence ; In Situ Hybridization, Fluorescence - methods ; Intellectual disabilities ; Intellectual Disability ; Intellectual Disability - etiology ; Intellectual Disability - genetics ; Life Sciences ; Male ; Medical genetics ; Medical sciences ; Mental retardation ; Methods ; Microsatellite Repeats ; Microsatellite Repeats - genetics ; Original ; Parents & parenting ; Pedigree ; PFGE ; Polymorphism, Genetic ; Polymorphism, Genetic - genetics ; pulse field gel electrophoresis ; Sensitivity and Specificity ; subtelomeric rearrangements ; Syndrome ; Telomere ; Telomere - genetics ; uniparental disomies ; Uniparental Disomy ; Uniparental Disomy - genetics ; UPD</subject><ispartof>Journal of medical genetics, 2002-04, Vol.39 (4), p.266-270</ispartof><rights>Copyright 2002 Journal of Medical Genetics</rights><rights>2002 INIST-CNRS</rights><rights>COPYRIGHT 2002 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2002 Copyright 2002 Journal of Medical Genetics</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b619t-b67a15c75a210d4f250773229cbe2b6a3319cda9e3829a13c92ba6c8b6c9c9863</citedby><orcidid>0000-0002-0987-7648</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735076/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735076/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14155215$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11950856$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-02142116$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Rio, M</creatorcontrib><creatorcontrib>Molinari, F</creatorcontrib><creatorcontrib>Heuertz, S</creatorcontrib><creatorcontrib>Ozilou, C</creatorcontrib><creatorcontrib>Gosset, P</creatorcontrib><creatorcontrib>Raoul, O</creatorcontrib><creatorcontrib>Cormier-Daire, V</creatorcontrib><creatorcontrib>Amiel, J</creatorcontrib><creatorcontrib>Lyonnet, S</creatorcontrib><creatorcontrib>Le Merrer, M</creatorcontrib><creatorcontrib>Turleau, C</creatorcontrib><creatorcontrib>de Blois, M-C</creatorcontrib><creatorcontrib>Prieur, M</creatorcontrib><creatorcontrib>Romana, S</creatorcontrib><creatorcontrib>Vekemans, M</creatorcontrib><creatorcontrib>Munnich, A</creatorcontrib><creatorcontrib>Colleaux, L</creatorcontrib><title>Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Recent studies have shown that cryptic unbalanced subtelomeric rearrangements contribute to a significant proportion of idiopathic syndromic mental retardation cases. Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.</description><subject>Automation</subject><subject>Biological and medical sciences</subject><subject>CGH</subject><subject>Child</subject><subject>Children & youth</subject><subject>Chromosome aberrations</subject><subject>Chromosome Deletion</subject><subject>Chromosome Mapping</subject><subject>Chromosome Mapping - economics</subject><subject>Chromosome Mapping - methods</subject><subject>Chromosome Segregation</subject><subject>Chromosome Segregation - genetics</subject><subject>Chromosomes</subject><subject>comparative genomic hybridisation</subject><subject>degenerate oligonucleotide primed polymerase chain reaction</subject><subject>Diagnosis</subject><subject>DOP-PCR</subject><subject>Families & family life</subject><subject>Female</subject><subject>FISH</subject><subject>fluorescence in situ hybridisation</subject><subject>Fluorescent Dyes</subject><subject>fluorescent genotyping</subject><subject>Gene Duplication</subject><subject>Gene Rearrangement</subject><subject>Gene Rearrangement - genetics</subject><subject>Genetic aspects</subject><subject>Genetic disorders</subject><subject>Genetic Testing</subject><subject>Genetic Testing - methods</subject><subject>Genetics</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Human genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>In Situ Hybridization, Fluorescence - methods</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability</subject><subject>Intellectual Disability - etiology</subject><subject>Intellectual Disability - genetics</subject><subject>Life Sciences</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Mental retardation</subject><subject>Methods</subject><subject>Microsatellite Repeats</subject><subject>Microsatellite Repeats - genetics</subject><subject>Original</subject><subject>Parents & parenting</subject><subject>Pedigree</subject><subject>PFGE</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Genetic - genetics</subject><subject>pulse field gel electrophoresis</subject><subject>Sensitivity and Specificity</subject><subject>subtelomeric rearrangements</subject><subject>Syndrome</subject><subject>Telomere</subject><subject>Telomere - genetics</subject><subject>uniparental disomies</subject><subject>Uniparental Disomy</subject><subject>Uniparental Disomy - genetics</subject><subject>UPD</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</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>eNp9kt-L1DAQx4so3nr65rMU5BTBXTNJmzYvwrKoJy764K_HkKZpN2vbrEl6uC_-7U7Z5VaPQwppkvlk5js_kuQxkAUA46-2fbtgYpEtKOd3khlkvJxzmmV3kxkhlM5pLthZ8iCELSHACuD3kzMAkZMy57Pk93KMrlfR1GnTjc6boM0Q09YMLu53dmjT2kSjY0iBXKSuSbXf76LVaRiraDrXG48Hb5T3amhNj49DaofU1tbtVNxM5H6ovetxN1lVh3RUvlbRuuFhcq9RXTCPjv_z5OvbN19Wl_P1p3fvV8v1vOIgIq6FglwXuaJA6qyhOSkKRqnQlaEVV4yB0LUShpVUKGBa0EpxXVZcCy1Kzs6T1we_u7HqTT3l6FUnd972yu-lU1b-axnsRrbuSkLBMNbk4MXBwebGs8vlWk53hEJGAfgVIPvsGMy7n6MJUfYWy9p1ajBuDBJ7QKAgBMGnN8CtG_2AhcC4JVCCLS2QenmgWtUZaYfGoUKNHTIo1A2msXi9LPOc0YxN0ee34PjVBntwG390r70LwZvmOj0gcpowiRMmmZCZRDmIP_m7kif4OFIIXBwBFbTqGpwLbcOJyyDPKeQnnTZE8-varvwPiUkXufz4bSW_f8gg-5wJyZB_fuCrfvt_iX8AqeH2Rw</recordid><startdate>20020401</startdate><enddate>20020401</enddate><creator>Rio, M</creator><creator>Molinari, F</creator><creator>Heuertz, S</creator><creator>Ozilou, C</creator><creator>Gosset, P</creator><creator>Raoul, O</creator><creator>Cormier-Daire, V</creator><creator>Amiel, J</creator><creator>Lyonnet, S</creator><creator>Le Merrer, M</creator><creator>Turleau, C</creator><creator>de Blois, M-C</creator><creator>Prieur, M</creator><creator>Romana, S</creator><creator>Vekemans, M</creator><creator>Munnich, A</creator><creator>Colleaux, L</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>BMJ Publishing Group</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>7X8</scope><scope>1XC</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0987-7648</orcidid></search><sort><creationdate>20020401</creationdate><title>Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation</title><author>Rio, M ; Molinari, F ; Heuertz, S ; Ozilou, C ; Gosset, P ; Raoul, O ; Cormier-Daire, V ; Amiel, J ; Lyonnet, S ; Le Merrer, M ; Turleau, C ; de Blois, M-C ; Prieur, M ; Romana, S ; Vekemans, M ; Munnich, A ; Colleaux, L</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b619t-b67a15c75a210d4f250773229cbe2b6a3319cda9e3829a13c92ba6c8b6c9c9863</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Automation</topic><topic>Biological and medical sciences</topic><topic>CGH</topic><topic>Child</topic><topic>Children & youth</topic><topic>Chromosome aberrations</topic><topic>Chromosome Deletion</topic><topic>Chromosome Mapping</topic><topic>Chromosome Mapping - economics</topic><topic>Chromosome Mapping - methods</topic><topic>Chromosome Segregation</topic><topic>Chromosome Segregation - genetics</topic><topic>Chromosomes</topic><topic>comparative genomic hybridisation</topic><topic>degenerate oligonucleotide primed polymerase chain reaction</topic><topic>Diagnosis</topic><topic>DOP-PCR</topic><topic>Families & family life</topic><topic>Female</topic><topic>FISH</topic><topic>fluorescence in situ hybridisation</topic><topic>Fluorescent Dyes</topic><topic>fluorescent genotyping</topic><topic>Gene Duplication</topic><topic>Gene Rearrangement</topic><topic>Gene Rearrangement - genetics</topic><topic>Genetic aspects</topic><topic>Genetic disorders</topic><topic>Genetic Testing</topic><topic>Genetic Testing - methods</topic><topic>Genetics</topic><topic>Genomes</topic><topic>Genotype</topic><topic>Human genetics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>In Situ Hybridization, Fluorescence - methods</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability</topic><topic>Intellectual Disability - etiology</topic><topic>Intellectual Disability - genetics</topic><topic>Life Sciences</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Mental retardation</topic><topic>Methods</topic><topic>Microsatellite Repeats</topic><topic>Microsatellite Repeats - genetics</topic><topic>Original</topic><topic>Parents & parenting</topic><topic>Pedigree</topic><topic>PFGE</topic><topic>Polymorphism, Genetic</topic><topic>Polymorphism, Genetic - genetics</topic><topic>pulse field gel electrophoresis</topic><topic>Sensitivity and Specificity</topic><topic>subtelomeric rearrangements</topic><topic>Syndrome</topic><topic>Telomere</topic><topic>Telomere - genetics</topic><topic>uniparental disomies</topic><topic>Uniparental Disomy</topic><topic>Uniparental Disomy - genetics</topic><topic>UPD</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rio, M</creatorcontrib><creatorcontrib>Molinari, F</creatorcontrib><creatorcontrib>Heuertz, S</creatorcontrib><creatorcontrib>Ozilou, C</creatorcontrib><creatorcontrib>Gosset, P</creatorcontrib><creatorcontrib>Raoul, O</creatorcontrib><creatorcontrib>Cormier-Daire, V</creatorcontrib><creatorcontrib>Amiel, J</creatorcontrib><creatorcontrib>Lyonnet, S</creatorcontrib><creatorcontrib>Le Merrer, M</creatorcontrib><creatorcontrib>Turleau, C</creatorcontrib><creatorcontrib>de Blois, M-C</creatorcontrib><creatorcontrib>Prieur, M</creatorcontrib><creatorcontrib>Romana, S</creatorcontrib><creatorcontrib>Vekemans, M</creatorcontrib><creatorcontrib>Munnich, A</creatorcontrib><creatorcontrib>Colleaux, L</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>MEDLINE - 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Using a fluorescent genotyping based strategy, we found a 10% rate of cryptic subtelomeric rearrangements in a large series of 150 probands with severe idiopathic syndromic mental retardation and normal RHG-GTG banded karyotype. Fourteen children were found to carry deletions or duplications of one or more chromosome telomeres and two children had uniparental disomy. This study clearly shows that fluorescent genotyping is a sensitive and cost effective method that not only detects cryptic subtelomeric rearrangements but also provides a unique opportunity to detect uniparental disomies. We suggest giving consideration to systematic examination of subtelomeric regions in the diagnostic work up of patients with unexplained syndromic mental retardation.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>11950856</pmid><doi>10.1136/jmg.39.4.266</doi><tpages>5</tpages><orcidid>https://orcid.org/0000-0002-0987-7648</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0022-2593 |
| ispartof | Journal of medical genetics, 2002-04, Vol.39 (4), p.266-270 |
| issn | 0022-2593 1468-6244 1468-6244 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735076 |
| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Automation Biological and medical sciences CGH Child Children & youth Chromosome aberrations Chromosome Deletion Chromosome Mapping Chromosome Mapping - economics Chromosome Mapping - methods Chromosome Segregation Chromosome Segregation - genetics Chromosomes comparative genomic hybridisation degenerate oligonucleotide primed polymerase chain reaction Diagnosis DOP-PCR Families & family life Female FISH fluorescence in situ hybridisation Fluorescent Dyes fluorescent genotyping Gene Duplication Gene Rearrangement Gene Rearrangement - genetics Genetic aspects Genetic disorders Genetic Testing Genetic Testing - methods Genetics Genomes Genotype Human genetics Humans In Situ Hybridization, Fluorescence In Situ Hybridization, Fluorescence - methods Intellectual disabilities Intellectual Disability Intellectual Disability - etiology Intellectual Disability - genetics Life Sciences Male Medical genetics Medical sciences Mental retardation Methods Microsatellite Repeats Microsatellite Repeats - genetics Original Parents & parenting Pedigree PFGE Polymorphism, Genetic Polymorphism, Genetic - genetics pulse field gel electrophoresis Sensitivity and Specificity subtelomeric rearrangements Syndrome Telomere Telomere - genetics uniparental disomies Uniparental Disomy Uniparental Disomy - genetics UPD |
| title | Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-07T10%3A07%3A31IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Automated%20fluorescent%20genotyping%20detects%2010%25%20of%20cryptic%20subtelomeric%20rearrangements%20in%20idiopathic%20syndromic%20mental%20retardation&rft.jtitle=Journal%20of%20medical%20genetics&rft.au=Rio,%20M&rft.date=2002-04-01&rft.volume=39&rft.issue=4&rft.spage=266&rft.epage=270&rft.pages=266-270&rft.issn=0022-2593&rft.eissn=1468-6244&rft.coden=JMDGAE&rft_id=info:doi/10.1136/jmg.39.4.266&rft_dat=%3Cgale_pubme%3EA85532431%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1781202667&rft_id=info:pmid/11950856&rft_galeid=A85532431&rfr_iscdi=true |