Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.</title><author><name sortKey="Petrovic, V" sort="Petrovic, V" uniqKey="Petrovic V" first="V" last="Petrovic">V. Petrovic</name></author><author><name sortKey="Nasioulas, S" sort="Nasioulas, S" uniqKey="Nasioulas S" first="S" last="Nasioulas">S. Nasioulas</name></author><author><name sortKey="Chow, C W" sort="Chow, C W" uniqKey="Chow C" first="C W" last="Chow">C W Chow</name></author><author><name sortKey="Voullaire, L" sort="Voullaire, L" uniqKey="Voullaire L" first="L" last="Voullaire">L. Voullaire</name></author><author><name sortKey="Schmidt, M" sort="Schmidt, M" uniqKey="Schmidt M" first="M" last="Schmidt">M. Schmidt</name></author><author><name sortKey="Dahl, H" sort="Dahl, H" uniqKey="Dahl H" first="H" last="Dahl">H. Dahl</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">1518023</idno><idno type="pmc">1016058</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016058</idno><idno type="RBID">PMC:1016058</idno><date when="1992">1992</date><idno type="wicri:Area/Pmc/Corpus">001865</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001865</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.</title><author><name sortKey="Petrovic, V" sort="Petrovic, V" uniqKey="Petrovic V" first="V" last="Petrovic">V. Petrovic</name></author><author><name sortKey="Nasioulas, S" sort="Nasioulas, S" uniqKey="Nasioulas S" first="S" last="Nasioulas">S. Nasioulas</name></author><author><name sortKey="Chow, C W" sort="Chow, C W" uniqKey="Chow C" first="C W" last="Chow">C W Chow</name></author><author><name sortKey="Voullaire, L" sort="Voullaire, L" uniqKey="Voullaire L" first="L" last="Voullaire">L. Voullaire</name></author><author><name sortKey="Schmidt, M" sort="Schmidt, M" uniqKey="Schmidt M" first="M" last="Schmidt">M. Schmidt</name></author><author><name sortKey="Dahl, H" sort="Dahl, H" uniqKey="Dahl H" first="H" last="Dahl">H. Dahl</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1992">1992</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X,+mar. The marker chromosome was observed in 58% of her blood lymphocytes. It was a small, pale staining, spherical fragment with GTL banding and showed faint differentiation along its length with CBG banding. DNA analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material. In situ hybridisation confirmed that the Y chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads. Gonadectomy was subsequently performed and histological examination showed dysgenetic gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00022-0025-a" xlink:role="543"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00022-0026-a" xlink:role="544"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00022-0026-b" xlink:role="544"></graphic></fig><fig id="F4"><graphic xlink:href="jmedgene00022-0027-a" xlink:role="545"></graphic></fig><fig id="F5"><graphic xlink:href="jmedgene00022-0028-a" xlink:role="546"></graphic></fig></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">1518023</article-id><article-id pub-id-type="pmc">1016058</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Petrovic</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Nasioulas</surname><given-names>S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Chow</surname><given-names>C W</given-names></name></contrib><contrib contrib-type="author"><name><surname>Voullaire</surname><given-names>L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Schmidt</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Dahl</surname><given-names>H</given-names></name></contrib></contrib-group><aff>Murdoch Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.</aff><pub-date pub-type="ppub"><month>8</month><year>1992</year></pub-date><volume>29</volume><issue>8</issue><fpage>542</fpage><lpage>546</lpage><abstract><p>A 12 year old girl referred for chromosome analysis because of short stature was found to have karyotype mos 45,X/46,X,+mar. The marker chromosome was observed in 58% of her blood lymphocytes. It was a small, pale staining, spherical fragment with GTL banding and showed faint differentiation along its length with CBG banding. DNA analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material. In situ hybridisation confirmed that the Y chromosomal material was associated with the marker chromosome. At laparotomy the patient was found to have streak gonads. Gonadectomy was subsequently performed and histological examination showed dysgenetic gonads with a dysgerminoma arising from a gonadoblastoma in the left gonad. This case shows that even very small Y derived marker chromosomes with pericentric material can predispose the phenotypic female to gonadal neoplasia.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00022-0025-a" xlink:role="543"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00022-0026-a" xlink:role="544"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00022-0026-b" xlink:role="544"></graphic></fig><fig id="F4"><graphic xlink:href="jmedgene00022-0027-a" xlink:role="545"></graphic></fig><fig id="F5"><graphic xlink:href="jmedgene00022-0028-a" xlink:role="546"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001865 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001865 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.31. |  |