Serveur d'exploration sur le lymphœdème

Attention, ce site est en cours de développement !
Attention, site généré par des moyens informatiques à partir de corpus bruts.
Les informations ne sont donc pas validées.

A small and active ring x chromosome in a female with features of Kabuki syndrome

Identifieur interne : 001168 ( Istex/Corpus ); précédent : 001167; suivant : 001169

A small and active ring x chromosome in a female with features of Kabuki syndrome

Auteurs : L. Rodríguez ; D. Diego-Alvarez ; I. Lorda-Sanchez ; F. L. Gallardo ; M. L. Martínez-Fernández ; M. E. Arroyo-Mu Oz ; M. L. Martínez-Frías

Source :

RBID : ISTEX:2689A748CF61693A14912D5A7479BD78583B2B99

Abstract

A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X‐inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley‐Liss, Inc.

Url:
DOI: 10.1002/ajmg.a.32521

Links to Exploration step

ISTEX:2689A748CF61693A14912D5A7479BD78583B2B99

Le document en format XML

<record>
<TEI wicri:istexFullTextTei="biblStruct">
<teiHeader>
<fileDesc>
<titleStmt>
<title xml:lang="en">A small and active ring x chromosome in a female with features of Kabuki syndrome</title>
<author>
<name sortKey="Rodriguez, L" sort="Rodriguez, L" uniqKey="Rodriguez L" first="L." last="Rodríguez">L. Rodríguez</name>
<affiliation>
<mods:affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Diego Lvarez, D" sort="Diego Lvarez, D" uniqKey="Diego Lvarez D" first="D." last="Diego-Alvarez">D. Diego-Alvarez</name>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lorda Anchez, I" sort="Lorda Anchez, I" uniqKey="Lorda Anchez I" first="I." last="Lorda-Sanchez">I. Lorda-Sanchez</name>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gallardo, F L" sort="Gallardo, F L" uniqKey="Gallardo F" first="F. L." last="Gallardo">F. L. Gallardo</name>
<affiliation>
<mods:affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martinez Ernandez, M L" sort="Martinez Ernandez, M L" uniqKey="Martinez Ernandez M" first="M. L." last="Martínez-Fernández">M. L. Martínez-Fernández</name>
<affiliation>
<mods:affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Arroyo U Oz, M E" sort="Arroyo U Oz, M E" uniqKey="Arroyo U Oz M" first="M. E." last="Arroyo-Mu Oz">M. E. Arroyo-Mu Oz</name>
<affiliation>
<mods:affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martinez Rias, M L" sort="Martinez Rias, M L" uniqKey="Martinez Rias M" first="M. L." last="Martínez-Frías">M. L. Martínez-Frías</name>
<affiliation>
<mods:affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt>
<idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:2689A748CF61693A14912D5A7479BD78583B2B99</idno>
<date when="2008" year="2008">2008</date>
<idno type="doi">10.1002/ajmg.a.32521</idno>
<idno type="url">https://api.istex.fr/document/2689A748CF61693A14912D5A7479BD78583B2B99/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">001168</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001168</idno>
</publicationStmt>
<sourceDesc>
<biblStruct>
<analytic>
<title level="a" type="main" xml:lang="en">A small and active ring x chromosome in a female with features of Kabuki syndrome
<ref type="note" target="#fn1"></ref>
</title>
<author>
<name sortKey="Rodriguez, L" sort="Rodriguez, L" uniqKey="Rodriguez L" first="L." last="Rodríguez">L. Rodríguez</name>
<affiliation>
<mods:affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Diego Lvarez, D" sort="Diego Lvarez, D" uniqKey="Diego Lvarez D" first="D." last="Diego-Alvarez">D. Diego-Alvarez</name>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Lorda Anchez, I" sort="Lorda Anchez, I" uniqKey="Lorda Anchez I" first="I." last="Lorda-Sanchez">I. Lorda-Sanchez</name>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Gallardo, F L" sort="Gallardo, F L" uniqKey="Gallardo F" first="F. L." last="Gallardo">F. L. Gallardo</name>
<affiliation>
<mods:affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martinez Ernandez, M L" sort="Martinez Ernandez, M L" uniqKey="Martinez Ernandez M" first="M. L." last="Martínez-Fernández">M. L. Martínez-Fernández</name>
<affiliation>
<mods:affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Arroyo U Oz, M E" sort="Arroyo U Oz, M E" uniqKey="Arroyo U Oz M" first="M. E." last="Arroyo-Mu Oz">M. E. Arroyo-Mu Oz</name>
<affiliation>
<mods:affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</mods:affiliation>
</affiliation>
</author>
<author>
<name sortKey="Martinez Rias, M L" sort="Martinez Rias, M L" uniqKey="Martinez Rias M" first="M. L." last="Martínez-Frías">M. L. Martínez-Frías</name>
<affiliation>
<mods:affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</mods:affiliation>
</affiliation>
<affiliation>
<mods:affiliation>Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain</mods:affiliation>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series>
<title level="j" type="main">American Journal of Medical Genetics Part A</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="ISSN">1552-4825</idno>
<idno type="eISSN">1552-4833</idno>
<imprint>
<biblScope unit="vol">146A</biblScope>
<biblScope unit="issue">21</biblScope>
<biblScope unit="page" from="2816">2816</biblScope>
<biblScope unit="page" to="2821">2821</biblScope>
<biblScope unit="page-count">6</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2008-11-01">2008-11-01</date>
</imprint>
<idno type="ISSN">1552-4825</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<idno type="ISSN">1552-4825</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X‐inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley‐Liss, Inc.</div>
</front>
</TEI>
<istex>
<corpusName>wiley</corpusName>
<keywords>
<teeft>
<json:string>chromosome</json:string>
<json:string>phenotype</json:string>
<json:string>genet</json:string>
<json:string>kabuki</json:string>
<json:string>xist</json:string>
<json:string>kabuki syndrome</json:string>
<json:string>karyotype</json:string>
<json:string>xist gene</json:string>
<json:string>genetics</json:string>
<json:string>mental retardation</json:string>
<json:string>american journal</json:string>
<json:string>medical genetics part</json:string>
<json:string>syndrome</json:string>
<json:string>inactivation</json:string>
<json:string>salud carlos</json:string>
<json:string>ring chromosome</json:string>
<json:string>small ring chromosome</json:string>
<json:string>online issue</json:string>
<json:string>genet part</json:string>
<json:string>female patient</json:string>
<json:string>clinical manifestations</json:string>
<json:string>craniofacial anomalies</json:string>
<json:string>growth retardation</json:string>
<json:string>tiny ring</json:string>
<json:string>turner syndrome</json:string>
<json:string>functional disomy</json:string>
<json:string>inactivation center</json:string>
</teeft>
</keywords>
<author>
<json:item>
<name>L. Rodríguez</name>
<affiliations>
<json:string>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</json:string>
<json:string>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</json:string>
<json:string>CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.</json:string>
</affiliations>
</json:item>
<json:item>
<name>D. Diego‐Alvarez</name>
<affiliations>
<json:string>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</json:string>
<json:string>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>I. Lorda‐Sanchez</name>
<affiliations>
<json:string>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</json:string>
<json:string>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>F.L. Gallardo</name>
<affiliations>
<json:string>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>M.L. Martínez‐Fernández</name>
<affiliations>
<json:string>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>M.E. Arroyo‐Muñoz</name>
<affiliations>
<json:string>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</json:string>
</affiliations>
</json:item>
<json:item>
<name>M.L. Martínez‐Frías</name>
<affiliations>
<json:string>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</json:string>
<json:string>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</json:string>
<json:string>Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain</json:string>
</affiliations>
</json:item>
</author>
<subject>
<json:item>
<lang>
<json:string>eng</json:string>
</lang>
<value>ring X chromosome</value>
</json:item>
<json:item>
<lang>
<json:string>eng</json:string>
</lang>
<value>XIST gene</value>
</json:item>
<json:item>
<lang>
<json:string>eng</json:string>
</lang>
<value>Kabuki syndrome</value>
</json:item>
<json:item>
<lang>
<json:string>eng</json:string>
</lang>
<value>X chromosome inactivation</value>
</json:item>
<json:item>
<lang>
<json:string>eng</json:string>
</lang>
<value>array CGH</value>
</json:item>
</subject>
<articleId>
<json:string>AJMG32521</json:string>
</articleId>
<language>
<json:string>eng</json:string>
</language>
<originalGenre>
<json:string>caseStudy</json:string>
</originalGenre>
<abstract>A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X‐inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley‐Liss, Inc.</abstract>
<qualityIndicators>
<score>5.019</score>
<pdfVersion>1.3</pdfVersion>
<pdfPageSize>594 x 792 pts</pdfPageSize>
<refBibsNative>true</refBibsNative>
<abstractCharCount>1156</abstractCharCount>
<pdfWordCount>2847</pdfWordCount>
<pdfCharCount>17379</pdfCharCount>
<pdfPageCount>6</pdfPageCount>
<abstractWordCount>181</abstractWordCount>
</qualityIndicators>
<title>A small and active ring x chromosome in a female with features of Kabuki syndrome</title>
<genre>
<json:string>case-report</json:string>
</genre>
<host>
<title>American Journal of Medical Genetics Part A</title>
<language>
<json:string>unknown</json:string>
</language>
<doi>
<json:string>10.1002/(ISSN)1552-4833</json:string>
</doi>
<issn>
<json:string>1552-4825</json:string>
</issn>
<eissn>
<json:string>1552-4833</json:string>
</eissn>
<publisherId>
<json:string>AJMG</json:string>
</publisherId>
<volume>146A</volume>
<issue>21</issue>
<pages>
<first>2816</first>
<last>2821</last>
<total>6</total>
</pages>
<genre>
<json:string>journal</json:string>
</genre>
<subject>
<json:item>
<value>Clinical Report</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>
<json:string>genetique medicale</json:string>
</inist>
</categories>
<publicationDate>2008</publicationDate>
<copyrightDate>2008</copyrightDate>
<doi>
<json:string>10.1002/ajmg.a.32521</json:string>
</doi>
<id>2689A748CF61693A14912D5A7479BD78583B2B99</id>
<score>1</score>
<fulltext>
<json:item>
<extension>pdf</extension>
<original>true</original>
<mimetype>application/pdf</mimetype>
<uri>https://api.istex.fr/document/2689A748CF61693A14912D5A7479BD78583B2B99/fulltext/pdf</uri>
</json:item>
<json:item>
<extension>zip</extension>
<original>false</original>
<mimetype>application/zip</mimetype>
<uri>https://api.istex.fr/document/2689A748CF61693A14912D5A7479BD78583B2B99/fulltext/zip</uri>
</json:item>
<istex:fulltextTEI uri="https://api.istex.fr/document/2689A748CF61693A14912D5A7479BD78583B2B99/fulltext/tei">
<teiHeader>
<fileDesc>
<titleStmt>
<title level="a" type="main" xml:lang="en">A small and active ring x chromosome in a female with features of Kabuki syndrome
<ref type="note" target="#fn1"></ref>
</title>
</titleStmt>
<publicationStmt>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<availability>
<licence>Copyright © 2008 Wiley‐Liss, Inc.</licence>
</availability>
<date type="published" when="2008-11-01"></date>
</publicationStmt>
<notesStmt>
<note type="content-type" subtype="case-report" source="caseStudy" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-29919SZJ-6">case-report</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="case-report">
<analytic>
<title level="a" type="main" xml:lang="en">A small and active ring x chromosome in a female with features of Kabuki syndrome
<ref type="note" target="#fn1"></ref>
</title>
<title level="a" type="short" xml:lang="en">SMALL ACTIVE r(X) IN A KS PATIENT</title>
<author xml:id="author-0000" role="corresp">
<persName>
<forename type="first">L.</forename>
<surname>Rodríguez</surname>
</persName>
<email>laura@isciii.es</email>
<affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
<affiliation>CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.</affiliation>
</author>
<author xml:id="author-0001">
<persName>
<forename type="first">D.</forename>
<surname>Diego‐Alvarez</surname>
</persName>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
<affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
</author>
<author xml:id="author-0002">
<persName>
<forename type="first">I.</forename>
<surname>Lorda‐Sanchez</surname>
</persName>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
<affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
</author>
<author xml:id="author-0003">
<persName>
<forename type="first">F.L.</forename>
<surname>Gallardo</surname>
</persName>
<affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
</author>
<author xml:id="author-0004">
<persName>
<forename type="first">M.L.</forename>
<surname>Martínez‐Fernández</surname>
</persName>
<affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
</author>
<author xml:id="author-0005">
<persName>
<forename type="first">M.E.</forename>
<surname>Arroyo‐Muñoz</surname>
</persName>
<affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
</author>
<author xml:id="author-0006">
<persName>
<forename type="first">M.L.</forename>
<surname>Martínez‐Frías</surname>
</persName>
<affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
<affiliation>Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain
<address>
<country key="ES"></country>
</address>
</affiliation>
</author>
<idno type="istex">2689A748CF61693A14912D5A7479BD78583B2B99</idno>
<idno type="DOI">10.1002/ajmg.a.32521</idno>
<idno type="unit">AJMG32521</idno>
<idno type="toTypesetVersion">file:AJMG.AJMG32521.pdf</idno>
</analytic>
<monogr>
<title level="j" type="main">American Journal of Medical Genetics Part A</title>
<title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title>
<idno type="pISSN">1552-4825</idno>
<idno type="eISSN">1552-4833</idno>
<idno type="book-DOI">10.1002/(ISSN)1552-4833</idno>
<idno type="book-part-DOI">10.1002/ajmg.a.v146a:21</idno>
<idno type="product">AJMG</idno>
<imprint>
<biblScope unit="vol">146A</biblScope>
<biblScope unit="issue">21</biblScope>
<biblScope unit="page" from="2816">2816</biblScope>
<biblScope unit="page" to="2821">2821</biblScope>
<biblScope unit="page-count">6</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2008-11-01"></date>
</imprint>
</monogr>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<abstract xml:lang="en" style="main">
<head>Abstract</head>
<p>A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X‐inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley‐Liss, Inc.</p>
</abstract>
<textClass>
<keywords xml:lang="en">
<term xml:id="kwd1">ring X chromosome</term>
<term xml:id="kwd2">
<hi rend="italic">XIST</hi>
gene</term>
<term xml:id="kwd3">Kabuki syndrome</term>
<term xml:id="kwd4">X chromosome inactivation</term>
<term xml:id="kwd5">array CGH</term>
</keywords>
<classCode scheme="articleCategory">Clinical Report</classCode>
<classCode scheme="tocHeading1">Clinical Reports</classCode>
</textClass>
<langUsage>
<language ident="EN"></language>
</langUsage>
</profileDesc>
</teiHeader>
</istex:fulltextTEI>
<json:item>
<extension>txt</extension>
<original>false</original>
<mimetype>text/plain</mimetype>
<uri>https://api.istex.fr/document/2689A748CF61693A14912D5A7479BD78583B2B99/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>Hoboken</publisherLoc>
</publisherInfo>
<doi registered="yes">10.1002/(ISSN)1552-4833</doi>
<issn type="print">1552-4825</issn>
<issn type="electronic">1552-4833</issn>
<idGroup>
<id type="product" value="AJMG"></id>
</idGroup>
<titleGroup>
<title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics Part A</title>
<title type="short">Am. J. Med. Genet.</title>
</titleGroup>
<selfCitationGroup>
<citation type="ancestor" xml:id="cit1">
<journalTitle>American Journal of Medical Genetics</journalTitle>
<accessionId ref="info:x-wiley/issn/01487299">0148-7299</accessionId>
<accessionId ref="info:x-wiley/issn/10968628">1096-8628</accessionId>
<pubYear year="2004">2004</pubYear>
</citation>
</selfCitationGroup>
</publicationMeta>
<publicationMeta level="part" position="210">
<doi origin="wiley" registered="yes">10.1002/ajmg.a.v146a:21</doi>
<idGroup>
<id type="focusSection" value="0"></id>
</idGroup>
<titleGroup>
<title type="focusSection" xml:lang="en">American Journal of Medical Genetics Part A</title>
</titleGroup>
<numberingGroup>
<numbering type="journalVolume" number="146">146A</numbering>
<numbering type="journalIssue">21</numbering>
</numberingGroup>
<coverDate startDate="2008-11-01">1 November 2008</coverDate>
</publicationMeta>
<publicationMeta level="unit" type="caseStudy" position="17" status="forIssue">
<doi origin="wiley" registered="yes">10.1002/ajmg.a.32521</doi>
<idGroup>
<id type="unit" value="AJMG32521"></id>
</idGroup>
<countGroup>
<count type="pageTotal" number="6"></count>
</countGroup>
<titleGroup>
<title type="articleCategory">Clinical Report</title>
<title type="tocHeading1">Clinical Reports</title>
</titleGroup>
<copyright ownership="publisher">Copyright © 2008 Wiley‐Liss, Inc.</copyright>
<eventGroup>
<event type="manuscriptReceived" date="2008-02-18"></event>
<event type="manuscriptAccepted" date="2008-06-25"></event>
<event type="publishedOnlineEarlyUnpaginated" date="2008-10-16"></event>
<event type="firstOnline" date="2008-10-16"></event>
<event type="publishedOnlineFinalForm" date="2008-10-24"></event>
<event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.6 mode:FullText source:FullText result:FullText" date="2010-05-07"></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">2816</numbering>
<numbering type="pageLast">2821</numbering>
</numberingGroup>
<correspondenceTo>CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.</correspondenceTo>
<linkGroup>
<link type="toTypesetVersion" href="file:AJMG.AJMG32521.pdf"></link>
</linkGroup>
</publicationMeta>
<contentMeta>
<countGroup>
<count type="figureTotal" number="5"></count>
<count type="tableTotal" number="0"></count>
<count type="referenceTotal" number="25"></count>
<count type="wordTotal" number="3073"></count>
</countGroup>
<titleGroup>
<title type="main" xml:lang="en">A small and active ring x chromosome in a female with features of Kabuki syndrome
<link href="#fn1"></link>
</title>
<title type="short" xml:lang="en">SMALL ACTIVE r(X) IN A KS PATIENT</title>
</titleGroup>
<creators>
<creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2" corresponding="yes">
<personName>
<givenNames>L.</givenNames>
<familyName>Rodríguez</familyName>
</personName>
<contactDetails>
<email>laura@isciii.es</email>
</contactDetails>
</creator>
<creator xml:id="au2" creatorRole="author" affiliationRef="#af2 #af3">
<personName>
<givenNames>D.</givenNames>
<familyName>Diego‐Alvarez</familyName>
</personName>
</creator>
<creator xml:id="au3" creatorRole="author" affiliationRef="#af2 #af3">
<personName>
<givenNames>I.</givenNames>
<familyName>Lorda‐Sanchez</familyName>
</personName>
</creator>
<creator xml:id="au4" creatorRole="author" affiliationRef="#af4">
<personName>
<givenNames>F.L.</givenNames>
<familyName>Gallardo</familyName>
</personName>
</creator>
<creator xml:id="au5" creatorRole="author" affiliationRef="#af1">
<personName>
<givenNames>M.L.</givenNames>
<familyName>Martínez‐Fernández</familyName>
</personName>
</creator>
<creator xml:id="au6" creatorRole="author" affiliationRef="#af4">
<personName>
<givenNames>M.E.</givenNames>
<familyName>Arroyo‐Muñoz</familyName>
</personName>
</creator>
<creator xml:id="au7" creatorRole="author" affiliationRef="#af1 #af2 #af5">
<personName>
<givenNames>M.L.</givenNames>
<familyName>Martínez‐Frías</familyName>
</personName>
</creator>
</creators>
<affiliationGroup>
<affiliation xml:id="af1" countryCode="ES" type="organization">
<unparsedAffiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af2" countryCode="ES" type="organization">
<unparsedAffiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af3" countryCode="ES" type="organization">
<unparsedAffiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af4" countryCode="ES" type="organization">
<unparsedAffiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</unparsedAffiliation>
</affiliation>
<affiliation xml:id="af5" countryCode="ES" type="organization">
<unparsedAffiliation>Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain</unparsedAffiliation>
</affiliation>
</affiliationGroup>
<keywordGroup xml:lang="en" type="author">
<keyword xml:id="kwd1">ring X chromosome</keyword>
<keyword xml:id="kwd2">
<i>XIST</i>
gene</keyword>
<keyword xml:id="kwd3">Kabuki syndrome</keyword>
<keyword xml:id="kwd4">X chromosome inactivation</keyword>
<keyword xml:id="kwd5">array CGH</keyword>
</keywordGroup>
<fundingInfo>
<fundingAgency>Fondo de Investigaciones Sanitarias (FIS)</fundingAgency>
<fundingNumber>PI020028</fundingNumber>
</fundingInfo>
<fundingInfo>
<fundingAgency>Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Spain</fundingAgency>
</fundingInfo>
<abstractGroup>
<abstract type="main" xml:lang="en">
<title type="main">Abstract</title>
<p>A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X‐inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley‐Liss, Inc.</p>
</abstract>
</abstractGroup>
</contentMeta>
<noteGroup>
<note xml:id="fn1">
<p>How to cite this article: Rodríguez L, Diego‐Alvarez D, Lorda‐Sanchez I, Gallardo FL, Martínez‐Fernández ML, Arroyo‐Muñoz ME, Martínez‐Frías ML. 2008. A small and active ring X chromosome in a female with features of Kabuki syndrome. Am J Med Genet Part A.</p>
</note>
</noteGroup>
</header>
</component>
</istex:document>
</istex:metadataXml>
<mods version="3.6">
<titleInfo lang="en">
<title>A small and active ring x chromosome in a female with features of Kabuki syndrome</title>
</titleInfo>
<titleInfo type="abbreviated" lang="en">
<title>SMALL ACTIVE r(X) IN A KS PATIENT</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en">
<title>A small and active ring x chromosome in a female with features of Kabuki syndrome</title>
</titleInfo>
<name type="personal">
<namePart type="given">L.</namePart>
<namePart type="family">Rodríguez</namePart>
<affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</affiliation>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</affiliation>
<affiliation>CIAC, Instituto de Salud Carlos III, Sinesio Delgado 6, Pabellón 3, 28029 Madrid, Spain.</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">D.</namePart>
<namePart type="family">Diego‐Alvarez</namePart>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</affiliation>
<affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">I.</namePart>
<namePart type="family">Lorda‐Sanchez</namePart>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</affiliation>
<affiliation>Servicio de Genética, Fundación Jiménez Díaz, Madrid, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">F.L.</namePart>
<namePart type="family">Gallardo</namePart>
<affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">M.L.</namePart>
<namePart type="family">Martínez‐Fernández</namePart>
<affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">M.E.</namePart>
<namePart type="family">Arroyo‐Muñoz</namePart>
<affiliation>Servicio de Pediatría del Hospital de Montilla, Montilla, Córdoba, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal">
<namePart type="given">M.L.</namePart>
<namePart type="family">Martínez‐Frías</namePart>
<affiliation>Estudio Colaborativo Español de Malformaciones Congénitas, Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain</affiliation>
<affiliation>Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain</affiliation>
<affiliation>Departamento de Farmacología, Facultad de Medicina, Universidad Complutense, Madrid, Spain</affiliation>
<role>
<roleTerm type="text">author</roleTerm>
</role>
</name>
<typeOfResource>text</typeOfResource>
<genre type="case-report" displayLabel="caseStudy"></genre>
<originInfo>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<place>
<placeTerm type="text">Hoboken</placeTerm>
</place>
<dateIssued encoding="w3cdtf">2008-11-01</dateIssued>
<dateCaptured encoding="w3cdtf">2008-02-18</dateCaptured>
<dateValid encoding="w3cdtf">2008-06-25</dateValid>
<copyrightDate encoding="w3cdtf">2008</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="references">25</extent>
<extent unit="words">3073</extent>
</physicalDescription>
<abstract lang="en">A ring X chromosome is found in about 6% of patients with Turner syndrome (TS), often with mosaicism for a 45,X cell line. Patients with this karyotype are reported to have a higher incidence of a more severe phenotype including mental retardation. In fact, some studies have shown a correlation between this severity and the presence or absence of an intact and functional X inactivation center (XIST). However, the phenotype of the individuals with r(X) cannot be entirely defined in terms of their X‐inactivation patterns. Nevertheless, a small group of these patients have been described to manifest clinical features reminiscent of the Kabuki syndrome. Here we present a female patient with clinical features resembling Kabuki syndrome and a mos 45,X/46,X,r(X) karyotype. Methylation analyses of polymorphic alleles of the androgen receptor gene showed that both alleles were unmethylated suggesting an active ring chromosome. A specific X chromosome array CGH was performed estimating the size of the ring to be 17 Mb, lacking the XIST gene, and including some genes with possible implications in the phenotype of the patient. © 2008 Wiley‐Liss, Inc.</abstract>
<note type="content">*How to cite this article: Rodríguez L, Diego‐Alvarez D, Lorda‐Sanchez I, Gallardo FL, Martínez‐Fernández ML, Arroyo‐Muñoz ME, Martínez‐Frías ML. 2008. A small and active ring X chromosome in a female with features of Kabuki syndrome. Am J Med Genet Part A.</note>
<note type="funding">Fondo de Investigaciones Sanitarias (FIS) - No. PI020028; </note>
<note type="funding">Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Spain</note>
<subject lang="en">
<genre>keywords</genre>
<topic>ring X chromosome</topic>
<topic>XIST gene</topic>
<topic>Kabuki syndrome</topic>
<topic>X chromosome inactivation</topic>
<topic>array CGH</topic>
</subject>
<relatedItem type="host">
<titleInfo>
<title>American Journal of Medical Genetics Part A</title>
</titleInfo>
<titleInfo type="abbreviated">
<title>Am. J. Med. Genet.</title>
</titleInfo>
<genre type="journal">journal</genre>
<subject>
<genre>article-category</genre>
<topic>Clinical Report</topic>
</subject>
<identifier type="ISSN">1552-4825</identifier>
<identifier type="eISSN">1552-4833</identifier>
<identifier type="DOI">10.1002/(ISSN)1552-4833</identifier>
<identifier type="PublisherID">AJMG</identifier>
<part>
<date>2008</date>
<detail type="volume">
<caption>vol.</caption>
<number>146A</number>
</detail>
<detail type="issue">
<caption>no.</caption>
<number>21</number>
</detail>
<extent unit="pages">
<start>2816</start>
<end>2821</end>
<total>6</total>
</extent>
</part>
</relatedItem>
<relatedItem type="preceding">
<titleInfo>
<title>American Journal of Medical Genetics</title>
</titleInfo>
<identifier type="ISSN">0148-7299</identifier>
<identifier type="ISSN">1096-8628</identifier>
<part>
<date point="end">2004</date>
</part>
</relatedItem>
<identifier type="istex">2689A748CF61693A14912D5A7479BD78583B2B99</identifier>
<identifier type="DOI">10.1002/ajmg.a.32521</identifier>
<identifier type="ArticleID">AJMG32521</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2008 Wiley‐Liss, Inc.</accessCondition>
<recordInfo>
<recordContentSource>WILEY</recordContentSource>
<recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin>
</recordInfo>
</mods>
</metadata>
<serie></serie>
</istex>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001168 | SxmlIndent | more

Ou

HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001168 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Istex
   |étape=   Corpus
   |type=    RBID
   |clé=     ISTEX:2689A748CF61693A14912D5A7479BD78583B2B99
   |texte=   A small and active ring x chromosome in a female with features of Kabuki syndrome
}}

Wicri

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024