Prenatal diagnostic indicators of paternal uniparental disomy 14
Identifieur interne : 006894 ( Istex/Corpus ); précédent : 006893; suivant : 006895Prenatal diagnostic indicators of paternal uniparental disomy 14
Auteurs : Logos Curtis ; Eric Antonelli ; Yvan Vial ; Peter Rimensberger ; Martine Le Merrer ; Christine Hinard ; Armand Bottani ; Siv FokstuenSource :
- Prenatal Diagnosis [ 0197-3851 ] ; 2006-08.
Abstract
To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.
Url:
DOI: 10.1002/pd.1453
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ISTEX:DFCE53245F4FDA13604F3DD8F3AEC3ACF1C83715Le document en format XML
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University Hospitals, Geneva, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Eric</forename><surname>Antonelli</surname></persName><affiliation>Department of Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Yvan</forename><surname>Vial</surname></persName><affiliation>Department of Gynecology and Obstetrics, Vaud University Hospital, Lausanne, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Peter</forename><surname>Rimensberger</surname></persName><affiliation>Pediatric and Neonatal Intensive Care Unit, Geneva University Hospitals, Geneva, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Martine</forename><surname>Le Merrer</surname></persName><affiliation>Service de Génétique Médicale, Hôpital Necker ‐ Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Christine</forename><surname>Hinard</surname></persName><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Armand</forename><surname>Bottani</surname></persName><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0007" role="corresp"><persName><forename type="first">Siv</forename><surname>Fokstuen</surname></persName><email>siv.fokstuen@medcli.unige.ch</email><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland<address><country key="CH"></country></address></affiliation><affiliation>Division of Medical Genetics, Centre Medical Universitaire, rue Michel‐Servet 1, CH 1211, Geneva 4, Switzerland.</affiliation></author><idno type="istex">DFCE53245F4FDA13604F3DD8F3AEC3ACF1C83715</idno><idno type="DOI">10.1002/pd.1453</idno><idno type="unit">PD1453</idno><idno type="toTypesetVersion">file:PD.PD1453.pdf</idno></analytic><monogr><title level="j" type="main">Prenatal Diagnosis</title><title level="j" type="alt">PRENATAL DIAGNOSIS</title><idno type="pISSN">0197-3851</idno><idno type="eISSN">1097-0223</idno><idno type="book-DOI">10.1002/(ISSN)1097-0223</idno><idno type="book-part-DOI">10.1002/pd.v26:8</idno><idno type="product">PD</idno><imprint><biblScope unit="vol">26</biblScope><biblScope 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Objectives
<p>To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.</p>
Methods/Results
<p>Ultrasonography at 23 weeks of gestation of a 37‐year‐old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor neonatal adaptation. From birth, he presented with severe respiratory insufficiency due to severe thoracic malformation. Clinical examination revealed a small, bell‐shaped thorax, redundant lax skin, mild contractures of the fingers and dysmorphic facial features. Chest X rays showed short, abnormally curved ribs that suggested the possibility of pat UPD14, which was confirmed by molecular analysis.</p>
Conclusion
<p>Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a ‘coat‐hanger’ configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell‐shaped thorax and polyhydramnios. Copyright © 2006 John Wiley & Sons, Ltd.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">paternal UPD14</term><term xml:id="kwd2">small thorax</term><term xml:id="kwd3">coat‐hanger sign</term><term xml:id="kwd4">prenatal thorax ultrasound features</term></keywords><classCode scheme="articleCategory">Short Communication</classCode><classCode scheme="tocHeading1">Short Communications</classCode></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/DFCE53245F4FDA13604F3DD8F3AEC3ACF1C83715/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>John Wiley & Sons, Ltd.</publisherName><publisherLoc>Chichester, UK</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1097-0223</doi><issn type="print">0197-3851</issn><issn type="electronic">1097-0223</issn><idGroup><id type="product" value="PD"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="PRENATAL DIAGNOSIS">Prenatal Diagnosis</title><title type="subtitle">Published in Affiliation With the International Society for Prenatal Diagnosis</title><title type="short">Prenat. 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creatorRole="author" affiliationRef="#af4"><personName><givenNames>Peter</givenNames><familyName>Rimensberger</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Martine</givenNames><familyName>Le Merrer</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Christine</givenNames><familyName>Hinard</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Armand</givenNames><familyName>Bottani</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Siv</givenNames><familyName>Fokstuen</familyName></personName><contactDetails><email>siv.fokstuen@medcli.unige.ch</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="CH" type="organization"><unparsedAffiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CH" type="organization"><unparsedAffiliation>Department of Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CH" type="organization"><unparsedAffiliation>Department of Gynecology and Obstetrics, Vaud University Hospital, Lausanne, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="CH" type="organization"><unparsedAffiliation>Pediatric and Neonatal Intensive Care Unit, Geneva University Hospitals, Geneva, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="FR" type="organization"><unparsedAffiliation>Service de Génétique Médicale, Hôpital Necker ‐ Enfants Malades, Paris, France</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">paternal UPD14</keyword><keyword xml:id="kwd2">small thorax</keyword><keyword xml:id="kwd3">coat‐hanger sign</keyword><keyword xml:id="kwd4">prenatal thorax ultrasound features</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Objectives</title><p>To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.</p></section><section xml:id="abs1-2"><title type="main">Methods/Results</title><p>Ultrasonography at 23 weeks of gestation of a 37‐year‐old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor neonatal adaptation. From birth, he presented with severe respiratory insufficiency due to severe thoracic malformation. Clinical examination revealed a small, bell‐shaped thorax, redundant lax skin, mild contractures of the fingers and dysmorphic facial features. Chest X rays showed short, abnormally curved ribs that suggested the possibility of pat UPD14, which was confirmed by molecular analysis.</p></section><section xml:id="abs1-3"><title type="main">Conclusion</title><p>Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a ‘coat‐hanger’ configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell‐shaped thorax and polyhydramnios. Copyright © 2006 John Wiley & Sons, Ltd.</p></section></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Prenatal diagnostic indicators of paternal uniparental disomy 14</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>PRENATAL DIAGNOSTIC INDICATORS OF PATERNAL UNIPARENTAL DISOMY 14</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Prenatal diagnostic indicators of paternal uniparental disomy 14</title></titleInfo><name type="personal"><namePart type="given">Logos</namePart><namePart type="family">Curtis</namePart><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eric</namePart><namePart type="family">Antonelli</namePart><affiliation>Department of Gynecology and Obstetrics, Geneva University Hospitals, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yvan</namePart><namePart type="family">Vial</namePart><affiliation>Department of Gynecology and Obstetrics, Vaud University Hospital, Lausanne, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Rimensberger</namePart><affiliation>Pediatric and Neonatal Intensive Care Unit, Geneva University Hospitals, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martine</namePart><namePart type="family">Le Merrer</namePart><affiliation>Service de Génétique Médicale, Hôpital Necker ‐ Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Hinard</namePart><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Armand</namePart><namePart type="family">Bottani</namePart><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Siv</namePart><namePart type="family">Fokstuen</namePart><affiliation>Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland</affiliation><affiliation>Division of Medical Genetics, Centre Medical Universitaire, rue Michel‐Servet 1, CH 1211, Geneva 4, Switzerland.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="brief-communication" displayLabel="shortCommunication"></genre><originInfo><publisher>John Wiley & Sons, Ltd.</publisher><place><placeTerm type="text">Chichester, UK</placeTerm></place><dateIssued encoding="w3cdtf">2006-08</dateIssued><dateCaptured encoding="w3cdtf">2005-06-02</dateCaptured><dateValid encoding="w3cdtf">2005-09-27</dateValid><copyrightDate encoding="w3cdtf">2006</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">4</extent><extent unit="tables">2</extent><extent unit="references">24</extent></physicalDescription><abstract>To present clinical findings of a child with paternal uniparental isodisomy 14 (pat UPD14) focusing on relevant prenatal characteristics.</abstract><abstract>Ultrasonography at 23 weeks of gestation of a 37‐year‐old multigravid woman revealed a fetus with polyhydramnios, small thorax, and short, distinctively angled ribs. Fetal karyotype was 46,XY. The child was born spontaneously at 35 weeks with poor neonatal adaptation. From birth, he presented with severe respiratory insufficiency due to severe thoracic malformation. Clinical examination revealed a small, bell‐shaped thorax, redundant lax skin, mild contractures of the fingers and dysmorphic facial features. Chest X rays showed short, abnormally curved ribs that suggested the possibility of pat UPD14, which was confirmed by molecular analysis.</abstract><abstract>Pat UPD14 is associated with a distinct clinical phenotype. Prognosis is poor because of severe respiratory insufficiency and neurodevelopmental retardation. Our report confirms salient postnatal signs of previous descriptions, especially the characteristic radiological abnormalities with ribs showing a ‘coat‐hanger’ configuration. Retrospective fetal ultrasound of our case allowed the identification of this pathognomonic feature prenatally, which makes it possible to consider pat UPD14 at routine prenatal sonography, in particular in combination with a small bell‐shaped thorax and polyhydramnios. Copyright © 2006 John Wiley & Sons, Ltd.</abstract><subject lang="en"><genre>keywords</genre><topic>paternal UPD14</topic><topic>small thorax</topic><topic>coat‐hanger sign</topic><topic>prenatal thorax ultrasound features</topic></subject><relatedItem type="host"><titleInfo><title>Prenatal Diagnosis</title><subTitle>Published in Affiliation With the International Society for Prenatal Diagnosis</subTitle></titleInfo><titleInfo type="abbreviated"><title>Prenat. Diagn.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Short Communication</topic></subject><identifier type="ISSN">0197-3851</identifier><identifier type="eISSN">1097-0223</identifier><identifier type="DOI">10.1002/(ISSN)1097-0223</identifier><identifier type="PublisherID">PD</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>8</number></detail><extent unit="pages"><start>662</start><end>666</end><total>5</total></extent></part></relatedItem><identifier type="istex">DFCE53245F4FDA13604F3DD8F3AEC3ACF1C83715</identifier><identifier type="DOI">10.1002/pd.1453</identifier><identifier type="ArticleID">PD1453</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 John Wiley & Sons, Ltd.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>John Wiley & Sons, Ltd.</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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