Interstitial deletion of (17)(p11.2p11.2) in nine patients
Identifieur interne : 002F20 ( Istex/Corpus ); précédent : 002F19; suivant : 002F21Interstitial deletion of (17)(p11.2p11.2) in nine patients
Auteurs : Ann C. M. Smith ; Loris Mcgavran ; Jeannie Robinson ; Gail Waldstein ; Jean Macfarlane ; Jon Zonona ; Jacob Reiss ; Martin Lahr ; Leland Allen ; Ellen Magenis ; John M. Opitz ; James F. ReynoldsSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1986-07.
Abstract
We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.
Url:
DOI: 10.1002/ajmg.1320240303
Links to Exploration step
ISTEX:64E3BC07354CBB76103CC794D6F0DAE7ED7EF540Le document en format XML
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Smith</name><affiliation><mods:affiliation>Genetic Services, Departments of Pediatric Medicine, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Mcgavran, Loris" sort="Mcgavran, Loris" uniqKey="Mcgavran L" first="Loris" last="Mcgavran">Loris Mcgavran</name><affiliation><mods:affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Robinson, Jeannie" sort="Robinson, Jeannie" uniqKey="Robinson J" first="Jeannie" last="Robinson">Jeannie Robinson</name><affiliation><mods:affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Waldstein, Gail" sort="Waldstein, Gail" uniqKey="Waldstein G" first="Gail" last="Waldstein">Gail Waldstein</name><affiliation><mods:affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Macfarlane, Jean" sort="Macfarlane, Jean" uniqKey="Macfarlane J" first="Jean" last="Macfarlane">Jean Macfarlane</name><affiliation><mods:affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Zonona, Jon" sort="Zonona, Jon" uniqKey="Zonona J" first="Jon" last="Zonona">Jon Zonona</name><affiliation><mods:affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Reiss, Jacob" sort="Reiss, Jacob" uniqKey="Reiss J" first="Jacob" last="Reiss">Jacob Reiss</name><affiliation><mods:affiliation>Kaiser Permenente, Portland</mods:affiliation></affiliation></author><author><name sortKey="Lahr, Martin" sort="Lahr, Martin" uniqKey="Lahr M" first="Martin" last="Lahr">Martin Lahr</name><affiliation><mods:affiliation>Fairview Training School, Salem, Oregon</mods:affiliation></affiliation></author><author><name sortKey="Allen, Leland" sort="Allen, Leland" uniqKey="Allen L" first="Leland" last="Allen">Leland Allen</name><affiliation><mods:affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Magenis, Ellen" sort="Magenis, Ellen" uniqKey="Magenis E" first="Ellen" last="Magenis">Ellen Magenis</name><affiliation><mods:affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</mods:affiliation></affiliation><affiliation><mods:affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. 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Smith</name><affiliation><mods:affiliation>Genetic Services, Departments of Pediatric Medicine, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Mcgavran, Loris" sort="Mcgavran, Loris" uniqKey="Mcgavran L" first="Loris" last="Mcgavran">Loris Mcgavran</name><affiliation><mods:affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Robinson, Jeannie" sort="Robinson, Jeannie" uniqKey="Robinson J" first="Jeannie" last="Robinson">Jeannie Robinson</name><affiliation><mods:affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Waldstein, Gail" sort="Waldstein, Gail" uniqKey="Waldstein G" first="Gail" last="Waldstein">Gail Waldstein</name><affiliation><mods:affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</mods:affiliation></affiliation></author><author><name sortKey="Macfarlane, Jean" sort="Macfarlane, Jean" uniqKey="Macfarlane J" first="Jean" last="Macfarlane">Jean Macfarlane</name><affiliation><mods:affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Zonona, Jon" sort="Zonona, Jon" uniqKey="Zonona J" first="Jon" last="Zonona">Jon Zonona</name><affiliation><mods:affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Reiss, Jacob" sort="Reiss, Jacob" uniqKey="Reiss J" first="Jacob" last="Reiss">Jacob Reiss</name><affiliation><mods:affiliation>Kaiser Permenente, Portland</mods:affiliation></affiliation></author><author><name sortKey="Lahr, Martin" sort="Lahr, Martin" uniqKey="Lahr M" first="Martin" last="Lahr">Martin Lahr</name><affiliation><mods:affiliation>Fairview Training School, Salem, Oregon</mods:affiliation></affiliation></author><author><name sortKey="Allen, Leland" sort="Allen, Leland" uniqKey="Allen L" first="Leland" last="Allen">Leland Allen</name><affiliation><mods:affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</mods:affiliation></affiliation></author><author><name sortKey="Magenis, Ellen" sort="Magenis, Ellen" uniqKey="Magenis E" first="Ellen" last="Magenis">Ellen Magenis</name><affiliation><mods:affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</mods:affiliation></affiliation><affiliation><mods:affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</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><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</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">24</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="393">393</biblScope><biblScope unit="page" to="414">414</biblScope><biblScope unit="page-count">22</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-07">1986-07</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">We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. 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Smith</name><affiliations><json:string>Genetic Services, Departments of Pediatric Medicine, The Children's Hospital, Denver, Colorado</json:string></affiliations></json:item><json:item><name>Loris McGavran</name><affiliations><json:string>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</json:string></affiliations></json:item><json:item><name>Jeannie Robinson</name><affiliations><json:string>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</json:string></affiliations></json:item><json:item><name>Gail Waldstein</name><affiliations><json:string>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</json:string></affiliations></json:item><json:item><name>Jean Macfarlane</name><affiliations><json:string>Crippled Children's Division, Oregon Health Sciences University, Portland</json:string></affiliations></json:item><json:item><name>Jon Zonona</name><affiliations><json:string>Crippled Children's Division, Oregon Health Sciences University, Portland</json:string></affiliations></json:item><json:item><name>Jacob Reiss</name><affiliations><json:string>Kaiser Permenente, Portland</json:string></affiliations></json:item><json:item><name>Martin Lahr</name><affiliations><json:string>Fairview Training School, Salem, Oregon</json:string></affiliations></json:item><json:item><name>Leland Allen</name><affiliations><json:string>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</json:string></affiliations></json:item><json:item><name>Ellen Magenis</name><affiliations><json:string>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</json:string><json:string>Crippled Children's Division, Oregon Health Sciences University, Portland</json:string></affiliations></json:item><json:item><name>John M. Opitz</name></json:item><json:item><name>James F. Reynolds</name></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>interstitial 17p deletion</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>partial monosomy 17p</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>del(17)(p11.2p11.2)</value></json:item></subject><articleId><json:string>AJMG1320240303</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.</abstract><qualityIndicators><score>6.572</score><pdfVersion>1.3</pdfVersion><pdfPageSize>486 x 719.759 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>899</abstractCharCount><pdfWordCount>6003</pdfWordCount><pdfCharCount>38056</pdfCharCount><pdfPageCount>22</pdfPageCount><abstractWordCount>131</abstractWordCount></qualityIndicators><title>Interstitial deletion of (17)(p11.2p11.2) in nine patients</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1096-8628</json:string></doi><issn><json:string>0148-7299</json:string></issn><eissn><json:string>1096-8628</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>24</volume><issue>3</issue><pages><first>393</first><last>414</last><total>22</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Article</value></json:item></subject></host><categories><inist><json:string>sciences appliquees, technologies et medecines</json:string><json:string>sciences biologiques et medicales</json:string><json:string>sciences medicales</json:string></inist></categories><publicationDate>1986</publicationDate><copyrightDate>1986</copyrightDate><doi><json:string>10.1002/ajmg.1320240303</json:string></doi><id>64E3BC07354CBB76103CC794D6F0DAE7ED7EF540</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/64E3BC07354CBB76103CC794D6F0DAE7ED7EF540/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/64E3BC07354CBB76103CC794D6F0DAE7ED7EF540/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/64E3BC07354CBB76103CC794D6F0DAE7ED7EF540/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Interstitial deletion of (17)(p11.2p11.2) in nine patients</title></titleStmt><publicationStmt><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><availability><licence>Copyright © 1986 Wiley‐Liss, Inc., A Wiley Company</licence></availability><date type="published" when="1986-07"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Interstitial deletion of (17)(p11.2p11.2) in nine patients</title><title level="a" type="short" xml:lang="en">Interstitial Deletion of (17)(p11.2p11.2)</title><author xml:id="author-0000"><persName><forename type="first">Ann C. M.</forename><surname>Smith</surname></persName><affiliation>Genetic Services, Departments of Pediatric Medicine, The Children's Hospital, Denver, Colorado<address><country key="US"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Loris</forename><surname>McGavran</surname></persName><affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Jeannie</forename><surname>Robinson</surname></persName><affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Gail</forename><surname>Waldstein</surname></persName><affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado<address><country key="US"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Jean</forename><surname>Macfarlane</surname></persName><affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Jon</forename><surname>Zonona</surname></persName><affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Jacob</forename><surname>Reiss</surname></persName><affiliation>Kaiser Permenente, Portland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Martin</forename><surname>Lahr</surname></persName><affiliation>Fairview Training School, Salem, Oregon<address><country key="US"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">Leland</forename><surname>Allen</surname></persName><affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Ellen</forename><surname>Magenis</surname></persName><affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland<address><country key="US"></country></address></affiliation><affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland<address><country key="US"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">John M.</forename><surname>Opitz</surname></persName></author><author xml:id="author-0011"><persName><forename type="first">James F.</forename><surname>Reynolds</surname></persName></author><idno type="istex">64E3BC07354CBB76103CC794D6F0DAE7ED7EF540</idno><idno type="DOI">10.1002/ajmg.1320240303</idno><idno type="unit">AJMG1320240303</idno><idno type="toTypesetVersion">file:AJMG.AJMG1320240303.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.v24:3</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">24</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="393">393</biblScope><biblScope unit="page" to="414">414</biblScope><biblScope unit="page-count">22</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-07"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">interstitial 17p deletion</term><term xml:id="kwd2">partial monosomy 17p</term><term xml:id="kwd3">del(17)(p11.2p11.2)</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/64E3BC07354CBB76103CC794D6F0DAE7ED7EF540/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. J. Med. Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="30"><doi origin="wiley" registered="yes">10.1002/ajmg.v24:3</doi><numberingGroup><numbering type="journalVolume" number="24">24</numbering><numbering type="journalIssue">3</numbering></numberingGroup><coverDate startDate="1986-07">July 1986</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="3" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.1320240303</doi><idGroup><id type="unit" value="AJMG1320240303"></id></idGroup><countGroup><count type="pageTotal" number="22"></count></countGroup><titleGroup><title type="articleCategory">Article</title><title type="tocHeading1">Articles</title></titleGroup><copyright ownership="publisher">Copyright © 1986 Wiley‐Liss, Inc., A Wiley Company</copyright><eventGroup><event type="manuscriptReceived" date="1984-12-15"></event><event type="manuscriptRevised" date="1985-07-17"></event><event type="firstOnline" date="2005-06-03"></event><event type="publishedOnlineFinalForm" date="2005-06-03"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.9 mode:FullText" date="2010-06-24"></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">393</numbering><numbering type="pageLast">414</numbering></numberingGroup><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG1320240303.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="13"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="25"></count></countGroup><titleGroup><title type="main" xml:lang="en">Interstitial deletion of (17)(p11.2p11.2) in nine patients</title><title type="short" xml:lang="en">Interstitial Deletion of (17)(p11.2p11.2)</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Ann C. M.</givenNames><familyName>Smith</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Loris</givenNames><familyName>McGavran</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Jeannie</givenNames><familyName>Robinson</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Gail</givenNames><familyName>Waldstein</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Jean</givenNames><familyName>Macfarlane</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Jon</givenNames><familyName>Zonona</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Jacob</givenNames><familyName>Reiss</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Martin</givenNames><familyName>Lahr</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Leland</givenNames><familyName>Allen</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af3 #af4"><personName><givenNames>Ellen</givenNames><familyName>Magenis</familyName></personName></creator><creator xml:id="au11" creatorRole="author"><personName><givenNames>John M.</givenNames><familyName>Opitz</familyName></personName><jobTitle>Editor</jobTitle></creator><creator xml:id="au12" creatorRole="author"><personName><givenNames>James F.</givenNames><familyName>Reynolds</familyName></personName><jobTitle>Editor</jobTitle></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Genetic Services, Departments of Pediatric Medicine, The Children's Hospital, Denver, Colorado</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Kaiser Permenente, Portland</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Fairview Training School, Salem, Oregon</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">interstitial 17p deletion</keyword><keyword xml:id="kwd2">partial monosomy 17p</keyword><keyword xml:id="kwd3">del(17)(p11.2p11.2)</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Interstitial deletion of (17)(p11.2p11.2) in nine patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Interstitial Deletion of (17)(p11.2p11.2)</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Interstitial deletion of (17)(p11.2p11.2) in nine patients</title></titleInfo><name type="personal"><namePart type="given">Ann C. M.</namePart><namePart type="family">Smith</namePart><affiliation>Genetic Services, Departments of Pediatric Medicine, The Children's Hospital, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Loris</namePart><namePart type="family">McGavran</namePart><affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jeannie</namePart><namePart type="family">Robinson</namePart><affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Gail</namePart><namePart type="family">Waldstein</namePart><affiliation>Genetic Services, Department Pathology, The Children's Hospital, Denver, Colorado</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean</namePart><namePart type="family">Macfarlane</namePart><affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jon</namePart><namePart type="family">Zonona</namePart><affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jacob</namePart><namePart type="family">Reiss</namePart><affiliation>Kaiser Permenente, Portland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martin</namePart><namePart type="family">Lahr</namePart><affiliation>Fairview Training School, Salem, Oregon</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Leland</namePart><namePart type="family">Allen</namePart><affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ellen</namePart><namePart type="family">Magenis</namePart><affiliation>Cytogenetics Laboratories, Oregon Health Sciences University, Portland</affiliation><affiliation>Crippled Children's Division, Oregon Health Sciences University, Portland</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><name type="personal"><namePart type="given">James F.</namePart><namePart type="family">Reynolds</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">1986-07</dateIssued><dateCaptured encoding="w3cdtf">1984-12-15</dateCaptured><copyrightDate encoding="w3cdtf">1986</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">13</extent><extent unit="tables">2</extent><extent unit="references">25</extent></physicalDescription><abstract lang="en">We describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.</abstract><subject lang="en"><genre>keywords</genre><topic>interstitial 17p deletion</topic><topic>partial monosomy 17p</topic><topic>del(17)(p11.2p11.2)</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>1986</date><detail type="volume"><caption>vol.</caption><number>24</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>393</start><end>414</end><total>22</total></extent></part></relatedItem><identifier type="istex">64E3BC07354CBB76103CC794D6F0DAE7ED7EF540</identifier><identifier type="DOI">10.1002/ajmg.1320240303</identifier><identifier type="ArticleID">AJMG1320240303</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 1986 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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