Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31
Identifieur interne : 007434 ( Istex/Corpus ); précédent : 007433; suivant : 007435Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31
Auteurs : S. Wilson ; O. Modebe ; Joseph W. Towner ; S. Douglas Frasier ; Ming S. Lin ; John M. OpitzSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1983-03.
Abstract
The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.
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DOI: 10.1002/ajmg.1320140321
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Modebe</name><affiliation><mods:affiliation>University of Nigeria Teaching Hospital, Enugu, Nigeria</mods:affiliation></affiliation></author><author><name sortKey="Towner, Joseph W" sort="Towner, Joseph W" uniqKey="Towner J" first="Joseph W." last="Towner">Joseph W. Towner</name><affiliation><mods:affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</mods:affiliation></affiliation></author><author><name sortKey="Frasier, S Douglas" sort="Frasier, S Douglas" uniqKey="Frasier S" first="S. Douglas" last="Frasier">S. Douglas Frasier</name><affiliation><mods:affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</mods:affiliation></affiliation></author><author><name sortKey="Lin, Ming S" sort="Lin, Ming S" uniqKey="Lin M" first="Ming S." last="Lin">Ming S. 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Wilson</name><affiliation><mods:affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</mods:affiliation></affiliation><affiliation><mods:affiliation>Genetics Division 1G24, Los Angeles County‐University of Southern California Medical Center, Los Angeles, CA 90033</mods:affiliation></affiliation></author><author><name sortKey="Modebe, O" sort="Modebe, O" uniqKey="Modebe O" first="O." last="Modebe">O. Modebe</name><affiliation><mods:affiliation>University of Nigeria Teaching Hospital, Enugu, Nigeria</mods:affiliation></affiliation></author><author><name sortKey="Towner, Joseph W" sort="Towner, Joseph W" uniqKey="Towner J" first="Joseph W." last="Towner">Joseph W. Towner</name><affiliation><mods:affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</mods:affiliation></affiliation></author><author><name sortKey="Frasier, S Douglas" sort="Frasier, S Douglas" uniqKey="Frasier S" first="S. Douglas" last="Frasier">S. Douglas Frasier</name><affiliation><mods:affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</mods:affiliation></affiliation></author><author><name sortKey="Lin, Ming S" sort="Lin, Ming S" uniqKey="Lin M" first="Ming S." last="Lin">Ming S. Lin</name><affiliation><mods:affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</mods:affiliation></affiliation></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">14</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="567">567</biblScope><biblScope unit="page" to="576">576</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1983-03">1983-03</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>deletion</json:string><json:string>chromosome</json:string><json:string>genet</json:string><json:string>phenotype</json:string><json:string>short stature</json:string><json:string>metacarpal</json:string><json:string>terminal deletion</json:string><json:string>gonadal dysgenesis</json:string><json:string>partial deletion</json:string><json:string>terminal deletions</json:string><json:string>partial deletions</json:string><json:string>normal size</json:string><json:string>secondary amenorrhea</json:string><json:string>interstitial</json:string><json:string>syndrome</json:string><json:string>short neck</json:string><json:string>radial epiphysis</json:string><json:string>chromosome constitution</json:string><json:string>dark bands</json:string><json:string>resin uptake</json:string><json:string>interstitial deletion</json:string><json:string>present case</json:string><json:string>pubic hair</json:string><json:string>tanner grade</json:string><json:string>southern california</json:string><json:string>angeles countyuniversity</json:string><json:string>short girls</json:string><json:string>late replication</json:string><json:string>inactive sites</json:string><json:string>distal phalanx</json:string><json:string>locus</json:string></teeft></keywords><author><json:item><name>Dr. Wilson</name><affiliations><json:string>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</json:string><json:string>Genetics Division 1G24, Los Angeles County‐University of Southern California Medical Center, Los Angeles, CA 90033</json:string></affiliations></json:item><json:item><name>O. Modebe</name><affiliations><json:string>University of Nigeria Teaching Hospital, Enugu, Nigeria</json:string></affiliations></json:item><json:item><name>Joseph W. Towner</name><affiliations><json:string>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</json:string></affiliations></json:item><json:item><name>S. Douglas Frasier</name><affiliations><json:string>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</json:string></affiliations></json:item><json:item><name>Ming S. Lin</name><affiliations><json:string>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</json:string></affiliations></json:item><json:item><name>John M. Opitz</name></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Ullrich‐Turner syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>deletion of short arm of X</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>interstitial deletion</value></json:item></subject><articleId><json:string>AJMG1320140321</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. 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Douglas</forename><surname>Frasier</surname></persName><affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Ming S.</forename><surname>Lin</surname></persName><affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">John M.</forename><surname>Opitz</surname></persName></author><idno type="istex">F7D842B7688C15432EF0D2956BB26BB25799CA81</idno><idno type="DOI">10.1002/ajmg.1320140321</idno><idno type="unit">AJMG1320140321</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320140321.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/ajmg.v14:3</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">14</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="567">567</biblScope><biblScope unit="page" to="576">576</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1983-03"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">Ullrich‐Turner syndrome</term><term xml:id="kwd2">deletion of short arm of X</term><term xml:id="kwd3">interstitial deletion</term></keywords><classCode scheme="articleCategory">Article</classCode><classCode scheme="tocHeading1">Articles</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/F7D842B7688C15432EF0D2956BB26BB25799CA81/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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Douglas</givenNames><familyName>Frasier</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ming S.</givenNames><familyName>Lin</familyName></personName></creator><creator xml:id="au6" creatorRole="author"><personName><givenNames>John M.</givenNames><familyName>Opitz</familyName></personName><jobTitle>Editor</jobTitle></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="NG" type="organization"><unparsedAffiliation>University of Nigeria Teaching Hospital, Enugu, Nigeria</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">Ullrich‐Turner syndrome</keyword><keyword xml:id="kwd2">deletion of short arm of X</keyword><keyword xml:id="kwd3">interstitial deletion</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Ullrich‐Turner Syndrome and del (Xp)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Wilson</namePart><affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</affiliation><affiliation>Genetics Division 1G24, Los Angeles County‐University of Southern California Medical Center, Los Angeles, CA 90033</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">O.</namePart><namePart type="family">Modebe</namePart><affiliation>University of Nigeria Teaching Hospital, Enugu, Nigeria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joseph W.</namePart><namePart type="family">Towner</namePart><affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S. Douglas</namePart><namePart type="family">Frasier</namePart><affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ming S.</namePart><namePart type="family">Lin</namePart><affiliation>University of Southern California School of Medicine and Los Angeles County‐University of Southern California Medical Center, Los Angeles</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John M.</namePart><namePart type="family">Opitz</namePart><role><roleTerm type="text">author</roleTerm></role><description>Editor</description></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">1983-03</dateIssued><dateCaptured encoding="w3cdtf">1982-04-30</dateCaptured><copyrightDate encoding="w3cdtf">1983</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></physicalDescription><abstract lang="en">The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.</abstract><subject lang="en"><genre>keywords</genre><topic>Ullrich‐Turner syndrome</topic><topic>deletion of short arm of X</topic><topic>interstitial deletion</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><subject><genre>article-category</genre><topic>Article</topic></subject><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>1983</date><detail type="volume"><caption>vol.</caption><number>14</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>567</start><end>576</end><total>10</total></extent></part></relatedItem><identifier type="istex">F7D842B7688C15432EF0D2956BB26BB25799CA81</identifier><identifier type="DOI">10.1002/ajmg.1320140321</identifier><identifier type="ArticleID">AJMG1320140321</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1983 Wiley‐Liss, Inc., A Wiley Company</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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|texte= Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31
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