Ring chromosome 18 in a mother and son
Identifieur interne : 007215 ( Istex/Corpus ); précédent : 007214; suivant : 007216Ring chromosome 18 in a mother and son
Auteurs : Walter P. Donlan ; Cynthia R. Dolan ; John M. Opitz ; James F. ReynoldsSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1986-05.
Abstract
Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.
Url:
DOI: 10.1002/ajmg.1320240121
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ISTEX:F3909DEFD0FF17C09D98391A8EAB64E88C3C54E8Le document en format XML
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Opitz</name><affiliation><mods:affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</mods:affiliation></affiliation></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. 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Donlan</name><affiliation><mods:affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</mods:affiliation></affiliation><affiliation><mods:affiliation>Inland Empire Genetics Counseling Service, West 800 Fifth Avenue, Spokane, WA 99210‐0248</mods:affiliation></affiliation></author><author><name sortKey="Dolan, Cynthia R" sort="Dolan, Cynthia R" uniqKey="Dolan C" first="Cynthia R." last="Dolan">Cynthia R. Dolan</name><affiliation><mods:affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</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><affiliation><mods:affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</mods:affiliation></affiliation></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name><affiliation><mods:affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</mods:affiliation></affiliation></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">1</biblScope><biblScope unit="page" from="171">171</biblScope><biblScope unit="page" to="174">174</biblScope><biblScope unit="page-count">4</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-05">1986-05</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">Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>chromosome</json:string><json:string>centile</json:string><json:string>schinzel</json:string><json:string>microcephaly</json:string><json:string>genetics</json:string><json:string>ring chromosome</json:string><json:string>donlan</json:string><json:string>mental retardation</json:string><json:string>empire genetics counseling service</json:string><json:string>ring chromosomes</json:string><json:string>rheumatoid arthritis</json:string><json:string>developmental delay</json:string><json:string>cytogenetic analysis</json:string><json:string>palmar triradii</json:string><json:string>ulnar loop</json:string><json:string>horace thuline</json:string><json:string>short stature</json:string><json:string>ring formation</json:string><json:string>prima gravida mother</json:string></teeft></keywords><author><json:item><name>Dr. Donlan</name><affiliations><json:string>Inland Empire Genetics Counseling Service, Spokane, Washington</json:string><json:string>Inland Empire Genetics Counseling Service, West 800 Fifth Avenue, Spokane, WA 99210‐0248</json:string></affiliations></json:item><json:item><name>Cynthia R. 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key="US"></country></address></affiliation><affiliation>Inland Empire Genetics Counseling Service, West 800 Fifth Avenue, Spokane, WA 99210‐0248</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Cynthia R.</forename><surname>Dolan</surname></persName><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington<address><country key="US"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">John M.</forename><surname>Opitz</surname></persName><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington<address><country key="US"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">James F.</forename><surname>Reynolds</surname></persName><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington<address><country key="US"></country></address></affiliation></author><idno 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We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Ring chromosome 18 in a mother and son</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Ring Chromosome 18</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Ring chromosome 18 in a mother and son</title></titleInfo><name type="personal"><namePart type="termsOfAddress">Dr.</namePart><namePart type="family">Donlan</namePart><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</affiliation><affiliation>Inland Empire Genetics Counseling Service, West 800 Fifth Avenue, Spokane, WA 99210‐0248</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cynthia R.</namePart><namePart type="family">Dolan</namePart><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John M.</namePart><namePart type="family">Opitz</namePart><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</affiliation><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><affiliation>Inland Empire Genetics Counseling Service, Spokane, Washington</affiliation><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">1986-05</dateIssued><dateCaptured encoding="w3cdtf">1985-05-24</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">3</extent><extent unit="references">5</extent></physicalDescription><abstract lang="en">Inheritance of ring chromosomes is reported infrequently. We report on a mother and her son both with a ring 18 chromosome, and describe the associated manifestations. The son had microcephaly, ptosis, short stature, and mental retardation; the mother was mentally retarded and had a similar facial appearance.</abstract><subject lang="en"><genre>keywords</genre><topic>chromosome 18</topic><topic>ring</topic><topic>familial</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>1</number></detail><extent unit="pages"><start>171</start><end>174</end><total>4</total></extent></part></relatedItem><identifier type="istex">F3909DEFD0FF17C09D98391A8EAB64E88C3C54E8</identifier><identifier type="DOI">10.1002/ajmg.1320240121</identifier><identifier type="ArticleID">AJMG1320240121</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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