Syndromal obesity due to paternal duplication 6(q24.3‐q27)
Identifieur interne : 002285 ( Istex/Corpus ); précédent : 002284; suivant : 002286Syndromal obesity due to paternal duplication 6(q24.3‐q27)
Auteurs : Arabella Smith ; Anna Jauch ; Howard Slater ; Lisa Robson ; Tyls SandanamSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1999-05-21.
Abstract
The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. Genet. 84:125–131, 1999. © 1999 Wiley‐Liss, Inc.
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DOI: 10.1002/(SICI)1096-8628(19990521)84:2<125::AID-AJMG8>3.0.CO;2-W
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We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. 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Box 3515, Parramatta 2124, Australia</json:string></affiliations></json:item><json:item><name>Anna Jauch</name><affiliations><json:string>Institut für Humangenetik, Heidelberg, Germany</json:string></affiliations></json:item><json:item><name>Howard Slater</name><affiliations><json:string>Murdoch Institute, Royal Children's Hospital, Melbourne, Australia</json:string></affiliations></json:item><json:item><name>Lisa Robson</name><affiliations><json:string>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta, Australia</json:string></affiliations></json:item><json:item><name>Tyls Sandanam</name><affiliations><json:string>Marsden Centre, Sydney, Australia</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>obesity genes</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chromosome 15</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>mental retardation</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Prader‐Willi syndrome</value></json:item></subject><articleId><json:string>AJMG8</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. 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Box 3515, Parramatta 2124, Australia</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Anna</forename><surname>Jauch</surname></persName><affiliation>Institut für Humangenetik, Heidelberg, Germany<address><country key="DE"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Howard</forename><surname>Slater</surname></persName><affiliation>Murdoch Institute, Royal Children's Hospital, Melbourne, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Lisa</forename><surname>Robson</surname></persName><affiliation>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Tyls</forename><surname>Sandanam</surname></persName><affiliation>Marsden Centre, Sydney, Australia<address><country key="AU"></country></address></affiliation></author><idno type="istex">4BC8AB811AF50E4D9FD7E81ED2626FB5D9F8C093</idno><idno type="DOI">10.1002/(SICI)1096-8628(19990521)84:2<125::AID-AJMG8>3.0.CO;2-W</idno><idno type="unit">AJMG8</idno><idno type="toTypesetVersion">file:AJMG.AJMG8.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><idno type="book-DOI">10.1002/(ISSN)1096-8628</idno><idno type="book-part-DOI">10.1002/(SICI)1096-8628(19990521)84:2<>1.0.CO;2-S</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">84</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="125">125</biblScope><biblScope unit="page" to="131">131</biblScope><biblScope unit="page-count">7</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-05-21"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. Genet. 84:125–131, 1999. © 1999 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">obesity genes</term><term xml:id="kwd2">chromosome 15</term><term xml:id="kwd3">mental retardation</term><term xml:id="kwd4">Prader‐Willi syndrome</term></keywords></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/4BC8AB811AF50E4D9FD7E81ED2626FB5D9F8C093/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>New York</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1096-8628</doi><issn type="print">0148-7299</issn><issn type="electronic">1096-8628</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics</title><title type="short">Am. 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Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/(SICI)1096-8628(19990521)84:2<>1.0.CO;2-S</doi><idGroup><id type="focusSection" value="0"></id></idGroup><titleGroup><title type="focusSection" xml:lang="en">American Journal of Medical Genetics</title></titleGroup><numberingGroup><numbering type="journalVolume" number="84">84</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="1999-05-21">21 May 1999</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="8" status="forIssue"><doi origin="wiley" registered="yes">10.1002/(SICI)1096-8628(19990521)84:2<125::AID-AJMG8>3.0.CO;2-W</doi><idGroup><id type="unit" value="AJMG8"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><copyright ownership="publisher">Copyright © 1999 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="1998-09-24"></event><event type="manuscriptAccepted" date="1998-12-18"></event><event type="firstOnline" date="1999-04-16"></event><event type="publishedOnlineFinalForm" date="1999-04-16"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:HeaderRef result:HeaderRef" date="2010-05-12"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">125</numbering><numbering type="pageLast">131</numbering></numberingGroup><correspondenceTo>Cytogenetics Department, Royal Alexandra Hospital for Children, P.O. Box 3515, Parramatta 2124, Australia</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG8.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="5"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="28"></count><count type="wordTotal" number="3614"></count></countGroup><titleGroup><title type="main" xml:lang="en">Syndromal obesity due to paternal duplication 6(q24.3‐q27)</title><title type="short" xml:lang="en">Paternal dup(6q) and Obesity</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Arabella</givenNames><familyName>Smith</familyName></personName><contactDetails><email>ellies@nch.edu.au</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Anna</givenNames><familyName>Jauch</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Howard</givenNames><familyName>Slater</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Lisa</givenNames><familyName>Robson</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Tyls</givenNames><familyName>Sandanam</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="AU" type="organization"><unparsedAffiliation>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="DE" type="organization"><unparsedAffiliation>Institut für Humangenetik, Heidelberg, Germany</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="AU" type="organization"><unparsedAffiliation>Murdoch Institute, Royal Children's Hospital, Melbourne, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="AU" type="organization"><unparsedAffiliation>Marsden Centre, Sydney, Australia</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">obesity genes</keyword><keyword xml:id="kwd2">chromosome 15</keyword><keyword xml:id="kwd3">mental retardation</keyword><keyword xml:id="kwd4">Prader‐Willi syndrome</keyword></keywordGroup><fundingInfo><fundingAgency>European Grant</fundingAgency><fundingNumber>ERBCHRXCT930177</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. Genet. 84:125–131, 1999. © 1999 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Syndromal obesity due to paternal duplication 6(q24.3‐q27)</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Paternal dup(6q) and Obesity</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Syndromal obesity due to paternal duplication 6(q24.3‐q27)</title></titleInfo><name type="personal"><namePart type="given">Arabella</namePart><namePart type="family">Smith</namePart><affiliation>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta, Australia</affiliation><affiliation>Cytogenetics Department, Royal Alexandra Hospital for Children, P.O. Box 3515, Parramatta 2124, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anna</namePart><namePart type="family">Jauch</namePart><affiliation>Institut für Humangenetik, Heidelberg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Howard</namePart><namePart type="family">Slater</namePart><affiliation>Murdoch Institute, Royal Children's Hospital, Melbourne, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lisa</namePart><namePart type="family">Robson</namePart><affiliation>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tyls</namePart><namePart type="family">Sandanam</namePart><affiliation>Marsden Centre, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">1999-05-21</dateIssued><dateCaptured encoding="w3cdtf">1998-09-24</dateCaptured><dateValid encoding="w3cdtf">1998-12-18</dateValid><copyrightDate encoding="w3cdtf">1999</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">5</extent><extent unit="tables">2</extent><extent unit="references">28</extent><extent unit="words">3614</extent></physicalDescription><abstract lang="en">The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. Genet. 84:125–131, 1999. © 1999 Wiley‐Liss, Inc.</abstract><note type="funding">European Grant - No. ERBCHRXCT930177; </note><subject lang="en"><genre>keywords</genre><topic>obesity genes</topic><topic>chromosome 15</topic><topic>mental retardation</topic><topic>Prader‐Willi syndrome</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0148-7299</identifier><identifier type="eISSN">1096-8628</identifier><identifier type="DOI">10.1002/(ISSN)1096-8628</identifier><identifier type="PublisherID">AJMG</identifier><part><date>1999</date><detail type="volume"><caption>vol.</caption><number>84</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>125</start><end>131</end><total>7</total></extent></part></relatedItem><identifier type="istex">4BC8AB811AF50E4D9FD7E81ED2626FB5D9F8C093</identifier><identifier type="DOI">10.1002/(SICI)1096-8628(19990521)84:2<125::AID-AJMG8>3.0.CO;2-W</identifier><identifier type="ArticleID">AJMG8</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1999 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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