Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome
Identifieur interne : 002F24 ( Istex/Corpus ); précédent : 002F23; suivant : 002F25Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome
Auteurs : Brad Angle ; Frank Yen ; Joseph H. Hersh ; Gordon GowansSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-02-01.
Abstract
Partial duplication of chromosome 3q is a well‐described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann‐de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of both chromosome abnormalities has not been previously described. We report on a child with both a de novo duplication of distal 3q (q27 → qter) and terminal deletion of 5q (q35.2 → qter). The patient had facial anomalies, hypoplastic toenails, lymphedema of the dorsum of the feet, type I Chiari malformation, a seizure disorder, and moderate developmental delays. The phenotype is compared and contrasted to the few reports of patients with similar terminal 3q duplications and 5q deletions. Our patient did not have the characteristic phenotype of the 3q duplication syndrome, suggesting that the chromosome region responsible for this phenotype is more proximal than the terminal 3q27 region. In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities. © 2003 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.10025
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Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of both chromosome abnormalities has not been previously described. We report on a child with both a de novo duplication of distal 3q (q27 → qter) and terminal deletion of 5q (q35.2 → qter). The patient had facial anomalies, hypoplastic toenails, lymphedema of the dorsum of the feet, type I Chiari malformation, a seizure disorder, and moderate developmental delays. The phenotype is compared and contrasted to the few reports of patients with similar terminal 3q duplications and 5q deletions. Our patient did not have the characteristic phenotype of the 3q duplication syndrome, suggesting that the chromosome region responsible for this phenotype is more proximal than the terminal 3q27 region. In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities. © 2003 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>deletion</json:string><json:string>chromosome</json:string><json:string>qter</json:string><json:string>phenotype</json:string><json:string>genet</json:string><json:string>abnormality</json:string><json:string>ndings</json:string><json:string>terminal deletion</json:string><json:string>duplication syndrome</json:string><json:string>syndrome</json:string><json:string>deletion syndrome</json:string><json:string>schafer</json:string><json:string>terminal region</json:string><json:string>fineman</json:string><json:string>steinbach</json:string><json:string>kleczkowska</json:string><json:string>karyotype</json:string><json:string>anomaly</json:string><json:string>characteristic phenotype</json:string><json:string>structural abnormalities</json:string><json:string>terminal portion</json:string><json:string>chromosome abnormalities</json:string><json:string>developmental delay</json:string><json:string>facial features</json:string><json:string>derivative chromosome</json:string><json:string>interstitial deletion</json:string><json:string>duplication</json:string></teeft></keywords><author><json:item><name>Brad Angle</name><affiliations><json:string>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</json:string><json:string>Weisskopf Center for the Evaluation of Children, University of Louisville, 571 S. 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Hersh</name><affiliations><json:string>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</json:string></affiliations></json:item><json:item><name>Gordon Gowans</name><affiliations><json:string>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>duplication 3q</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>deletion 5q</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>3q27 → qter</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>5q35.2 → qter</value></json:item></subject><articleId><json:string>AJMG10025</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>caseStudy</json:string></originalGenre><abstract>Partial duplication of chromosome 3q is a well‐described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann‐de Lange syndrome. 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In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities. © 2003 Wiley‐Liss, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">duplication 3q</term><term xml:id="kwd2">deletion 5q</term><term xml:id="kwd3">3q27 → qter</term><term xml:id="kwd4">5q35.2 → qter</term></keywords><classCode scheme="articleCategory">Clinical Report</classCode><classCode scheme="tocHeading1">Clinical Reports</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/65041A5EE354D2D087679BE6A8CEDDEA98AA0E15/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)1552-4833</doi><issn type="print">1552-4825</issn><issn type="electronic">1552-4833</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 Part A</title><title type="short">Am. 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In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities. © 2003 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Duplication 3q and Deletion 5q</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome</title></titleInfo><name type="personal"><namePart type="given">Brad</namePart><namePart type="family">Angle</namePart><affiliation>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</affiliation><affiliation>Weisskopf Center for the Evaluation of Children, University of Louisville, 571 S. Floyd St. Suite 100, Louisville, KY 40202.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frank</namePart><namePart type="family">Yen</namePart><affiliation>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joseph H.</namePart><namePart type="family">Hersh</namePart><affiliation>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gordon</namePart><namePart type="family">Gowans</namePart><affiliation>Weisskopf Center for the Evaluation of Children, Department of Pediatrics, University of Louisville, Louisville, Kentucky</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="case-report" displayLabel="caseStudy"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">New York</placeTerm></place><dateIssued encoding="w3cdtf">2003-02-01</dateIssued><dateCaptured encoding="w3cdtf">2002-04-19</dateCaptured><dateValid encoding="w3cdtf">2002-07-31</dateValid><copyrightDate encoding="w3cdtf">2003</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">2</extent><extent unit="tables">2</extent><extent unit="references">18</extent><extent unit="words">2250</extent></physicalDescription><abstract lang="en">Partial duplication of chromosome 3q is a well‐described condition of multiple congenital anomalies and developmental delay that resembles the Brachmann‐de Lange syndrome. Similarly, an emerging phenotype of a distal 5q deletion syndrome has recently been described. The combination of both chromosome abnormalities has not been previously described. We report on a child with both a de novo duplication of distal 3q (q27 → qter) and terminal deletion of 5q (q35.2 → qter). The patient had facial anomalies, hypoplastic toenails, lymphedema of the dorsum of the feet, type I Chiari malformation, a seizure disorder, and moderate developmental delays. The phenotype is compared and contrasted to the few reports of patients with similar terminal 3q duplications and 5q deletions. Our patient did not have the characteristic phenotype of the 3q duplication syndrome, suggesting that the chromosome region responsible for this phenotype is more proximal than the terminal 3q27 region. In addition, comparison with three other reported cases of terminal 5q35 deletions suggests a possible association of terminal 5q deletions with central nervous system (CNS) structural abnormalities. © 2003 Wiley‐Liss, Inc.</abstract><subject lang="en"><genre>keywords</genre><topic>duplication 3q</topic><topic>deletion 5q</topic><topic>3q27 → qter</topic><topic>5q35.2 → qter</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Clinical Report</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2003</date><detail type="volume"><caption>vol.</caption><number>116A</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>376</start><end>380</end><total>5</total></extent></part></relatedItem><identifier type="istex">65041A5EE354D2D087679BE6A8CEDDEA98AA0E15</identifier><identifier type="DOI">10.1002/ajmg.a.10025</identifier><identifier type="ArticleID">AJMG10025</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 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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