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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.</title><author><name sortKey="Kondo, I" sort="Kondo, I" uniqKey="Kondo I" first="I" last="Kondo">I. Kondo</name></author><author><name sortKey="Hamaguchi, H" sort="Hamaguchi, H" uniqKey="Hamaguchi H" first="H" last="Hamaguchi">H. Hamaguchi</name></author><author><name sortKey="Matsuura, A" sort="Matsuura, A" uniqKey="Matsuura A" first="A" last="Matsuura">A. Matsuura</name></author><author><name sortKey="Nakajima, H" sort="Nakajima, H" uniqKey="Nakajima H" first="H" last="Nakajima">H. Nakajima</name></author><author><name sortKey="Koyama, A" sort="Koyama, A" uniqKey="Koyama A" first="A" last="Koyama">A. Koyama</name></author><author><name sortKey="Takita, H" sort="Takita, H" uniqKey="Takita H" first="H" last="Takita">H. Takita</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">490589</idno><idno type="pmc">1012681</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1012681</idno><idno type="RBID">PMC:1012681</idno><date when="1979">1979</date><idno type="wicri:Area/Pmc/Corpus">001880</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001880</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.</title><author><name sortKey="Kondo, I" sort="Kondo, I" uniqKey="Kondo I" first="I" last="Kondo">I. Kondo</name></author><author><name sortKey="Hamaguchi, H" sort="Hamaguchi, H" uniqKey="Hamaguchi H" first="H" last="Hamaguchi">H. Hamaguchi</name></author><author><name sortKey="Matsuura, A" sort="Matsuura, A" uniqKey="Matsuura A" first="A" last="Matsuura">A. Matsuura</name></author><author><name sortKey="Nakajima, H" sort="Nakajima, H" uniqKey="Nakajima H" first="H" last="Nakajima">H. Nakajima</name></author><author><name sortKey="Koyama, A" sort="Koyama, A" uniqKey="Koyama A" first="A" last="Koyama">A. Koyama</name></author><author><name sortKey="Takita, H" sort="Takita, H" uniqKey="Takita H" first="H" last="Takita">H. Takita</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="1979">1979</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>The first case of Turner's syndrome with the familial translocation not involving the X chromosome is described. The patient had a number of clinical signs of Turner's syndrome and her karyotype was 45,X,t(1;2)(q32;q2)mat. Though it is speculated that the altered structure of a chromosome may influence meiotic disjunction of a non-homologous chromosome, our case suggests that there may be no relationship between the two chromosomal abnormalities.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00293-0078-a" xlink:role="321"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00293-0079-a" xlink:role="322"></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">490589</article-id><article-id pub-id-type="pmc">1012681</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kondo</surname><given-names>I</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hamaguchi</surname><given-names>H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Matsuura</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Nakajima</surname><given-names>H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Koyama</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Takita</surname><given-names>H</given-names></name></contrib></contrib-group><pub-date pub-type="ppub"><month>8</month><year>1979</year></pub-date><volume>16</volume><issue>4</issue><fpage>321</fpage><lpage>323</lpage><abstract><p>The first case of Turner's syndrome with the familial translocation not involving the X chromosome is described. The patient had a number of clinical signs of Turner's syndrome and her karyotype was 45,X,t(1;2)(q32;q2)mat. Though it is speculated that the altered structure of a chromosome may influence meiotic disjunction of a non-homologous chromosome, our case suggests that there may be no relationship between the two chromosomal abnormalities.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00293-0078-a" xlink:role="321"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00293-0079-a" xlink:role="322"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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