Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families
Identifieur interne : 000892 ( Istex/Corpus ); précédent : 000891; suivant : 000893Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families
Auteurs : Margarete S. Mattevi ; Henry Wolff ; F. M. Salzano ; Maria C. MallmannSource :
- Humangenetik [ 0018-7348 ] ; 1971-06-01.
Abstract
Summary: 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.
Url:
DOI: 10.1007/BF00295794
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ISTEX:1334549EAFB3C50283B76A0FDE3AF82209D3B393Le document en format XML
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Salzano</name><affiliation><mods:affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Mallmann, Maria C" sort="Mallmann, Maria C" uniqKey="Mallmann M" first="Maria C." last="Mallmann">Maria C. Mallmann</name><affiliation><mods:affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Humangenetik</title><title level="j" type="abbrev">Humangenetik</title><idno type="ISSN">0018-7348</idno><idno type="eISSN">1432-1203</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="1971-06-01">1971-06-01</date><biblScope unit="volume">13</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="126">126</biblScope><biblScope unit="page" to="143">143</biblScope></imprint><idno type="ISSN">0018-7348</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0018-7348</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Summary: 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.</div></front></TEI><istex><corpusName>springer</corpusName><keywords><teeft><json:string>dysgenesis</json:string><json:string>gonadal</json:string><json:string>gonadal dysgenesis</json:string><json:string>chromosome</json:string><json:string>cytogenetic</json:string><json:string>karyotype</json:string><json:string>genealogical</json:string><json:string>salzano</json:string><json:string>mattevi</json:string><json:string>genet</json:string><json:string>genealogical analyses</json:string><json:string>amenorrhea</json:string><json:string>lymphedema</json:string><json:string>facies</json:string><json:string>shield chest</json:string><json:string>short neck</json:string><json:string>other series</json:string><json:string>reproductive history</json:string><json:string>first cousins</json:string><json:string>cell line</json:string><json:string>acta genet</json:string><json:string>first number</json:string><json:string>mosaic</json:string><json:string>syndrome</json:string><json:string>auditive problems</json:string><json:string>arched palate</json:string><json:string>high frequencies</json:string><json:string>abnormal nails</json:string><json:string>short stature</json:string><json:string>mosaic gonadal dysgenesis patients characteristics</json:string><json:string>sexual characteristics</json:string><json:string>short neck micrognathia</json:string><json:string>palate shield chest cubitus valgus</json:string><json:string>cubitus valgus</json:string><json:string>system malformations</json:string><json:string>hair lymphedema lymphedema</json:string><json:string>total number</json:string><json:string>cytogenetic studies</json:string><json:string>clinical symptoms</json:string><json:string>gonadal agenesis</json:string><json:string>chromosome studies</json:string><json:string>primary amenorrhea</json:string><json:string>chromosome complement</json:string><json:string>gonadal dysgenesis syndrome</json:string><json:string>primary amenorrhoea</json:string></teeft></keywords><author><json:item><name>Margarete S. Mattevi</name><affiliations><json:string>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</json:string><json:string>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</json:string></affiliations></json:item><json:item><name>Henry Wolff</name><affiliations><json:string>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</json:string><json:string>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</json:string></affiliations></json:item><json:item><name>F. M. Salzano</name><affiliations><json:string>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</json:string><json:string>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</json:string></affiliations></json:item><json:item><name>Maria C. Mallmann</name><affiliations><json:string>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</json:string><json:string>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</json:string></affiliations></json:item></author><articleId><json:string>BF00295794</json:string><json:string>Art5</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>OriginalPaper</json:string></originalGenre><abstract>Summary: 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.</abstract><qualityIndicators><score>6.776</score><pdfWordCount>6069</pdfWordCount><pdfCharCount>26927</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>18</pdfPageCount><pdfPageSize>468 x 684 pts</pdfPageSize><refBibsNative>false</refBibsNative><abstractWordCount>148</abstractWordCount><abstractCharCount>973</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their 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families</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><availability><p>Springer-Verlag, 1971</p></availability><date>1971-06-01</date></publicationStmt><notesStmt><note>Original Investigations</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families</title><author xml:id="author-0000"><persName><forename type="first">Margarete</forename><surname>Mattevi</surname></persName><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Henry</forename><surname>Wolff</surname></persName><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation></author><author xml:id="author-0002"><persName><forename type="first">F.</forename><surname>Salzano</surname></persName><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Maria</forename><surname>Mallmann</surname></persName><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation></author><idno type="istex">1334549EAFB3C50283B76A0FDE3AF82209D3B393</idno><idno type="DOI">10.1007/BF00295794</idno><idno type="ArticleID">BF00295794</idno><idno type="ArticleID">Art5</idno></analytic><monogr><title level="j">Humangenetik</title><title level="j" type="abbrev">Humangenetik</title><idno type="pISSN">0018-7348</idno><idno type="eISSN">1432-1203</idno><idno type="journal-ID">true</idno><idno type="issue-article-count">11</idno><idno type="volume-issue-count">4</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="1971-06-01"></date><biblScope unit="volume">13</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="126">126</biblScope><biblScope unit="page" to="143">143</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>1971-06-01</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Summary: 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.</p></abstract><abstract xml:lang="de"><p>Zusammenfassung: 46 Personen mit Symptomen der Gonadendysgenesie wurden untersucht. 16 von ihnen waren 45,XO und zeigten Symptome des Turner-Syndroms. 15 erwiesen sich als Chromosomenmosaiken; 12 von ihnen zeigten ebenfalls das Turner-Syndrom, 2 zeigten eine gemischte Gonadendysgenesie, während 1 Patient ein Gonadoblastom aufwies. Außerdem wurden 2 Fälle von einer Gonadendysgenesie und 13 Patienten mit normalem Karyotyp beobachtet. Die klinischen und genealogischen Daten von diesen Patienten und ihren Familien wurden mit denen aus 26 Literaturserien verglichen. Außer den Störungen der sexuellen Entwicklung sind die folgenden Mißbildungen häufig: Kleinwuchs, abnorme Nägel, niedrige Haargrenze, Pigmentnaevi, schildförmiger Torax, kurzer Hals, Cubitus valgus. Im allgemeinen zeigen Personen mit 45,XO-Karyotypen ein schwereres klinisches Bild als Mosaiken. Unter den Geschwistern der Patienten finden sich Zwillinge häufiger als erwartet; das gilt auch für 3 der 5 anderen Serien, für die Daten verfügbar sind.</p></abstract><textClass><keywords scheme="Journal Subject"><list><head>Biomedicine</head><item><term>Human Genetics</term></item><item><term>Molecular Medicine</term></item><item><term>Internal Medicine</term></item><item><term>Metabolic Diseases</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="1971-06-01">Created</change><change when="1971-06-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/1334549EAFB3C50283B76A0FDE3AF82209D3B393/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Springer, Publisher found" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//Springer-Verlag//DTD A++ V2.4//EN" URI="http://devel.springer.de/A++/V2.4/DTD/A++V2.4.dtd" name="istex:docType"></istex:docType><istex:document><Publisher><PublisherInfo><PublisherName>Springer-Verlag</PublisherName><PublisherLocation>Berlin/Heidelberg</PublisherLocation></PublisherInfo><Journal><JournalInfo JournalProductType="ArchiveJournal" NumberingStyle="Unnumbered"><JournalID>439</JournalID><JournalPrintISSN>0018-7348</JournalPrintISSN><JournalElectronicISSN>1432-1203</JournalElectronicISSN><JournalTitle>Humangenetik</JournalTitle><JournalAbbreviatedTitle>Humangenetik</JournalAbbreviatedTitle><JournalSubjectGroup><JournalSubject Type="Primary">Biomedicine</JournalSubject><JournalSubject Type="Secondary">Human Genetics</JournalSubject><JournalSubject Type="Secondary">Molecular Medicine</JournalSubject><JournalSubject Type="Secondary">Internal Medicine</JournalSubject><JournalSubject Type="Secondary">Metabolic Diseases</JournalSubject></JournalSubjectGroup></JournalInfo><Volume><VolumeInfo VolumeType="Regular" TocLevels="0"><VolumeIDStart>13</VolumeIDStart><VolumeIDEnd>13</VolumeIDEnd><VolumeIssueCount>4</VolumeIssueCount></VolumeInfo><Issue IssueType="Regular"><IssueInfo TocLevels="0"><IssueIDStart>2</IssueIDStart><IssueIDEnd>2</IssueIDEnd><IssueArticleCount>11</IssueArticleCount><IssueHistory><CoverDate><DateString>30. IX. 1971</DateString><Year>1971</Year><Month>6</Month></CoverDate></IssueHistory><IssueCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1971</CopyrightYear></IssueCopyright></IssueInfo><Article ID="Art5"><ArticleInfo Language="En" ArticleType="OriginalPaper" NumberingStyle="Unnumbered" TocLevels="0" ContainsESM="No"><ArticleID>BF00295794</ArticleID><ArticleDOI>10.1007/BF00295794</ArticleDOI><ArticleSequenceNumber>5</ArticleSequenceNumber><ArticleTitle Language="En">Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families</ArticleTitle><ArticleCategory>Original Investigations</ArticleCategory><ArticleFirstPage>126</ArticleFirstPage><ArticleLastPage>143</ArticleLastPage><ArticleHistory><RegistrationDate><Year>2004</Year><Month>8</Month><Day>18</Day></RegistrationDate><Received><Year>1971</Year><Month>6</Month><Day>1</Day></Received></ArticleHistory><ArticleCopyright><CopyrightHolderName>Springer-Verlag</CopyrightHolderName><CopyrightYear>1971</CopyrightYear></ArticleCopyright><ArticleGrants Type="Regular"><MetadataGrant Grant="OpenAccess"></MetadataGrant><AbstractGrant Grant="OpenAccess"></AbstractGrant><BodyPDFGrant Grant="Restricted"></BodyPDFGrant><BodyHTMLGrant Grant="Restricted"></BodyHTMLGrant><BibliographyGrant Grant="Restricted"></BibliographyGrant><ESMGrant Grant="Restricted"></ESMGrant></ArticleGrants><ArticleContext><JournalID>439</JournalID><VolumeIDStart>13</VolumeIDStart><VolumeIDEnd>13</VolumeIDEnd><IssueIDStart>2</IssueIDStart><IssueIDEnd>2</IssueIDEnd></ArticleContext></ArticleInfo><ArticleHeader><AuthorGroup><Author AffiliationIDS="Aff1 Aff2"><AuthorName DisplayOrder="Western"><GivenName>Margarete</GivenName><GivenName>S.</GivenName><FamilyName>Mattevi</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1 Aff2"><AuthorName DisplayOrder="Western"><GivenName>Henry</GivenName><FamilyName>Wolff</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1 Aff2"><AuthorName DisplayOrder="Western"><GivenName>F.</GivenName><GivenName>M.</GivenName><FamilyName>Salzano</FamilyName></AuthorName></Author><Author AffiliationIDS="Aff1 Aff2"><AuthorName DisplayOrder="Western"><GivenName>Maria</GivenName><GivenName>C.</GivenName><FamilyName>Mallmann</FamilyName></AuthorName></Author><Affiliation ID="Aff1"><OrgDivision>Departamento de Genética, Instituto de Biociências</OrgDivision><OrgName>Universidade Federal do Rio Grande do Sul</OrgName><OrgAddress><Country>Brazil</Country></OrgAddress></Affiliation><Affiliation ID="Aff2"><OrgDivision>Disciplina de Endocrinologia, Nutrologia e Genética Médica</OrgDivision><OrgName>Faculdade Católica de Medicina, Pôrto Alegre</OrgName><OrgAddress><Country>Brazil</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Summary</Heading><Para>46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.</Para></Abstract><Abstract ID="Abs2" Language="De"><Heading>Zusammenfassung</Heading><Para>46 Personen mit Symptomen der Gonadendysgenesie wurden untersucht. 16 von ihnen waren 45,XO und zeigten Symptome des Turner-Syndroms. 15 erwiesen sich als Chromosomenmosaiken; 12 von ihnen zeigten ebenfalls das Turner-Syndrom, 2 zeigten eine gemischte Gonadendysgenesie, während 1 Patient ein Gonadoblastom aufwies. Außerdem wurden 2 Fälle von einer Gonadendysgenesie und 13 Patienten mit normalem Karyotyp beobachtet. Die klinischen und genealogischen Daten von diesen Patienten und ihren Familien wurden mit denen aus 26 Literaturserien verglichen. Außer den Störungen der sexuellen Entwicklung sind die folgenden Mißbildungen häufig: Kleinwuchs, abnorme Nägel, niedrige Haargrenze, Pigmentnaevi, schildförmiger Torax, kurzer Hals, Cubitus valgus. Im allgemeinen zeigen Personen mit 45,XO-Karyotypen ein schwereres klinisches Bild als Mosaiken. Unter den Geschwistern der Patienten finden sich Zwillinge häufiger als erwartet; das gilt auch für 3 der 5 anderen Serien, für die Daten verfügbar sind.</Para></Abstract><ArticleNote Type="Misc"><SimplePara>Née Suñé.</SimplePara></ArticleNote></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Cytogenetic, clinical and genealogical analyses in a series of gonadal dysgenesis patients and their families</title></titleInfo><name type="personal"><namePart type="given">Margarete</namePart><namePart type="given">S.</namePart><namePart type="family">Mattevi</namePart><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Henry</namePart><namePart type="family">Wolff</namePart><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">F.</namePart><namePart type="given">M.</namePart><namePart type="family">Salzano</namePart><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria</namePart><namePart type="given">C.</namePart><namePart type="family">Mallmann</namePart><affiliation>Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Brazil</affiliation><affiliation>Disciplina de Endocrinologia, Nutrologia e Genética Médica, Faculdade Católica de Medicina, Pôrto Alegre, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="OriginalPaper"></genre><originInfo><publisher>Springer-Verlag</publisher><place><placeTerm type="text">Berlin/Heidelberg</placeTerm></place><dateCreated encoding="w3cdtf">1971-06-01</dateCreated><dateIssued encoding="w3cdtf">1971-06-01</dateIssued><copyrightDate encoding="w3cdtf">1971</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract lang="en">Summary: 46 individuals, ascertained due to gonadal dysgenesis symptoms, were studied. 16 of them were 45, X and showed characteristics of Turner's syndrome. 15 proved to be chromosome mosaics and presented Turner's syndrome (12 cases), mixed gonadal dysgenesis (2) and gonadoblastoma (1). There were also 2 cases of pure gonadal dysgenesis and 13 patients with normal karyotypes. The clinical and genealogical data obtained from these individuals and their families were compared with 26 other series reported in the literature. Common malformations besides those related to sexual development are: short stature, abnormal nails, low implantation of hair, pigmented naevi, shield chest, short neck and cubitus valgus. Persons with 45,X karyotypes generally presented a more severe clinical picture than mosaics. The prevalence of twins is higher than expected among the patients' sibs in the cases reported here and in 3 of the 5 other series for which data are available.</abstract><abstract lang="de">Zusammenfassung: 46 Personen mit Symptomen der Gonadendysgenesie wurden untersucht. 16 von ihnen waren 45,XO und zeigten Symptome des Turner-Syndroms. 15 erwiesen sich als Chromosomenmosaiken; 12 von ihnen zeigten ebenfalls das Turner-Syndrom, 2 zeigten eine gemischte Gonadendysgenesie, während 1 Patient ein Gonadoblastom aufwies. Außerdem wurden 2 Fälle von einer Gonadendysgenesie und 13 Patienten mit normalem Karyotyp beobachtet. Die klinischen und genealogischen Daten von diesen Patienten und ihren Familien wurden mit denen aus 26 Literaturserien verglichen. Außer den Störungen der sexuellen Entwicklung sind die folgenden Mißbildungen häufig: Kleinwuchs, abnorme Nägel, niedrige Haargrenze, Pigmentnaevi, schildförmiger Torax, kurzer Hals, Cubitus valgus. Im allgemeinen zeigen Personen mit 45,XO-Karyotypen ein schwereres klinisches Bild als Mosaiken. Unter den Geschwistern der Patienten finden sich Zwillinge häufiger als erwartet; das gilt auch für 3 der 5 anderen Serien, für die Daten verfügbar sind.</abstract><note>Original Investigations</note><relatedItem type="host"><titleInfo><title>Humangenetik</title></titleInfo><titleInfo type="abbreviated"><title>Humangenetik</title></titleInfo><genre type="journal" displayLabel="Archive Journal"></genre><originInfo><dateIssued encoding="w3cdtf">1971-06-01</dateIssued><copyrightDate encoding="w3cdtf">1971</copyrightDate></originInfo><subject><genre>Biomedicine</genre><topic>Human Genetics</topic><topic>Molecular Medicine</topic><topic>Internal Medicine</topic><topic>Metabolic Diseases</topic></subject><identifier type="ISSN">0018-7348</identifier><identifier type="eISSN">1432-1203</identifier><identifier type="JournalID">439</identifier><identifier type="IssueArticleCount">11</identifier><identifier type="VolumeIssueCount">4</identifier><part><date>1971</date><detail type="volume"><number>13</number><caption>vol.</caption></detail><detail type="issue"><number>2</number><caption>no.</caption></detail><extent unit="pages"><start>126</start><end>143</end></extent></part><recordInfo><recordOrigin>Springer-Verlag, 1971</recordOrigin></recordInfo></relatedItem><identifier type="istex">1334549EAFB3C50283B76A0FDE3AF82209D3B393</identifier><identifier type="DOI">10.1007/BF00295794</identifier><identifier type="ArticleID">BF00295794</identifier><identifier type="ArticleID">Art5</identifier><accessCondition type="use and reproduction" contentType="copyright">Springer-Verlag, 1971</accessCondition><recordInfo><recordContentSource>SPRINGER</recordContentSource><recordOrigin>Springer-Verlag, 1971</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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