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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.</title><author><name sortKey="Mcleod, D R" sort="Mcleod, D R" uniqKey="Mcleod D" first="D R" last="Mcleod">D R Mcleod</name></author><author><name sortKey="Wesselman, L R" sort="Wesselman, L R" uniqKey="Wesselman L" first="L R" last="Wesselman">L R Wesselman</name></author><author><name sortKey="Hoar, D I" sort="Hoar, D I" uniqKey="Hoar D" first="D I" last="Hoar">D I Hoar</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">1920372</idno><idno type="pmc">1016985</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016985</idno><idno type="RBID">PMC:1016985</idno><date when="1991">1991</date><idno type="wicri:Area/Pmc/Corpus">001869</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001869</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.</title><author><name sortKey="Mcleod, D R" sort="Mcleod, D R" uniqKey="Mcleod D" first="D R" last="Mcleod">D R Mcleod</name></author><author><name sortKey="Wesselman, L R" sort="Wesselman, L R" uniqKey="Wesselman L" first="L R" last="Wesselman">L R Wesselman</name></author><author><name sortKey="Hoar, D I" sort="Hoar, D I" uniqKey="Hoar D" first="D I" last="Hoar">D I Hoar</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="1991">1991</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00034-0039-a" xlink:role="541"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00034-0040-a" xlink:role="542"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00034-0041-a" xlink:role="543"></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">1920372</article-id><article-id pub-id-type="pmc">1016985</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>McLeod</surname><given-names>D R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Wesselman</surname><given-names>L R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hoar</surname><given-names>D I</given-names></name></contrib></contrib-group><aff>Department of Paediatrics, Faculty of Medicine, University of Calgary, Alberta Children's Hospital, Canada.</aff><pub-date pub-type="ppub"><month>8</month><year>1991</year></pub-date><volume>28</volume><issue>8</issue><fpage>541</fpage><lpage>543</lpage><abstract><p>We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast karyotype 47,XX,+marker (presumed i(12p]. Fibroblast cytogenetic studies should be considered in all cases of diaphragmatic hernia associated with other malformations.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00034-0039-a" xlink:role="541"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00034-0040-a" xlink:role="542"></graphic></fig><fig id="F3"><graphic xlink:href="jmedgene00034-0041-a" xlink:role="543"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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