Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
Identifieur interne : 001904 ( Pmc/Corpus ); précédent : 001903; suivant : 001905Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
Auteurs : P. Dalton ; B. Coppin ; R. James ; D. Skuse ; P. JacobsSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1998.
Abstract
Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some characteristic features of Turner syndrome. We used conventional cytogenetics, in situ hybridisation, and molecular genetics to describe all three structurally abnormal chromosomes and the parental origin of two of them. We briefly discuss the "inactivation enhancement" theory; however, any genotype-phenotype correlation is complicated by the presence of the 45,X cell line.
Url:
PubMed: 9643298
PubMed Central: 1051351
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Three patients with a 45,X/46,X,psu dic(Xp) karyotype.</title><author><name sortKey="Dalton, P" sort="Dalton, P" uniqKey="Dalton P" first="P" last="Dalton">P. Dalton</name></author><author><name sortKey="Coppin, B" sort="Coppin, B" uniqKey="Coppin B" first="B" last="Coppin">B. Coppin</name></author><author><name sortKey="James, R" sort="James, R" uniqKey="James R" first="R" last="James">R. James</name></author><author><name sortKey="Skuse, D" sort="Skuse, D" uniqKey="Skuse D" first="D" last="Skuse">D. Skuse</name></author><author><name sortKey="Jacobs, P" sort="Jacobs, P" uniqKey="Jacobs P" first="P" last="Jacobs">P. Jacobs</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">9643298</idno><idno type="pmc">1051351</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051351</idno><idno type="RBID">PMC:1051351</idno><date when="1998">1998</date><idno type="wicri:Area/Pmc/Corpus">001904</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001904</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Three patients with a 45,X/46,X,psu dic(Xp) karyotype.</title><author><name sortKey="Dalton, P" sort="Dalton, P" uniqKey="Dalton P" first="P" last="Dalton">P. Dalton</name></author><author><name sortKey="Coppin, B" sort="Coppin, B" uniqKey="Coppin B" first="B" last="Coppin">B. Coppin</name></author><author><name sortKey="James, R" sort="James, R" uniqKey="James R" first="R" last="James">R. James</name></author><author><name sortKey="Skuse, D" sort="Skuse, D" uniqKey="Skuse D" first="D" last="Skuse">D. Skuse</name></author><author><name sortKey="Jacobs, P" sort="Jacobs, P" uniqKey="Jacobs P" first="P" last="Jacobs">P. Jacobs</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="1998">1998</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some characteristic features of Turner syndrome. We used conventional cytogenetics, in situ hybridisation, and molecular genetics to describe all three structurally abnormal chromosomes and the parental origin of two of them. We briefly discuss the "inactivation enhancement" theory; however, any genotype-phenotype correlation is complicated by the presence of the 45,X cell line.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00235-0081-a" xlink:role="521"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00235-0082-a" xlink:role="522"></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">9643298</article-id><article-id pub-id-type="pmc">1051351</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Three patients with a 45,X/46,X,psu dic(Xp) karyotype.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Dalton</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Coppin</surname><given-names>B</given-names></name></contrib><contrib contrib-type="author"><name><surname>James</surname><given-names>R</given-names></name></contrib><contrib contrib-type="author"><name><surname>Skuse</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Jacobs</surname><given-names>P</given-names></name></contrib></contrib-group><aff>Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.</aff><pub-date pub-type="ppub"><month>6</month><year>1998</year></pub-date><volume>35</volume><issue>6</issue><fpage>519</fpage><lpage>524</lpage><abstract><p>Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some characteristic features of Turner syndrome. We used conventional cytogenetics, in situ hybridisation, and molecular genetics to describe all three structurally abnormal chromosomes and the parental origin of two of them. We briefly discuss the "inactivation enhancement" theory; however, any genotype-phenotype correlation is complicated by the presence of the 45,X cell line.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><graphic xlink:href="jmedgene00235-0081-a" xlink:role="521"></graphic></fig><fig id="F2"><graphic xlink:href="jmedgene00235-0082-a" xlink:role="522"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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