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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.</title><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R C" last="Hennekam">R C Hennekam</name></author><author><name sortKey="Tilanus, M" sort="Tilanus, M" uniqKey="Tilanus M" first="M" last="Tilanus">M. Tilanus</name></author><author><name sortKey="Hamel, B C" sort="Hamel, B C" uniqKey="Hamel B" first="B C" last="Hamel">B C Hamel</name></author><author><name sortKey="Voshart Van Heeren, H" sort="Voshart Van Heeren, H" uniqKey="Voshart Van Heeren H" first="H" last="Voshart-Van Heeren">H. Voshart-Van Heeren</name></author><author><name sortKey="Mariman, E C" sort="Mariman, E C" uniqKey="Mariman E" first="E C" last="Mariman">E C Mariman</name></author><author><name sortKey="Van Beersum, S E" sort="Van Beersum, S E" uniqKey="Van Beersum S" first="S E" last="Van Beersum">S E Van Beersum</name></author><author><name sortKey="Van Den Boogaard, M J" sort="Van Den Boogaard, M J" uniqKey="Van Den Boogaard M" first="M J" last="Van Den Boogaard">M J Van Den Boogaard</name></author><author><name sortKey="Breuning, M H" sort="Breuning, M H" uniqKey="Breuning M" first="M H" last="Breuning">M H Breuning</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">8430692</idno><idno type="pmc">1682213</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682213</idno><idno type="RBID">PMC:1682213</idno><date when="1993">1993</date><idno type="wicri:Area/Pmc/Corpus">001029</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001029</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.</title><author><name sortKey="Hennekam, R C" sort="Hennekam, R C" uniqKey="Hennekam R" first="R C" last="Hennekam">R C Hennekam</name></author><author><name sortKey="Tilanus, M" sort="Tilanus, M" uniqKey="Tilanus M" first="M" last="Tilanus">M. Tilanus</name></author><author><name sortKey="Hamel, B C" sort="Hamel, B C" uniqKey="Hamel B" first="B C" last="Hamel">B C Hamel</name></author><author><name sortKey="Voshart Van Heeren, H" sort="Voshart Van Heeren, H" uniqKey="Voshart Van Heeren H" first="H" last="Voshart-Van Heeren">H. Voshart-Van Heeren</name></author><author><name sortKey="Mariman, E C" sort="Mariman, E C" uniqKey="Mariman E" first="E C" last="Mariman">E C Mariman</name></author><author><name sortKey="Van Beersum, S E" sort="Van Beersum, S E" uniqKey="Van Beersum S" first="S E" last="Van Beersum">S E Van Beersum</name></author><author><name sortKey="Van Den Boogaard, M J" sort="Van Den Boogaard, M J" uniqKey="Van Den Boogaard M" first="M J" last="Van Den Boogaard">M J Van Den Boogaard</name></author><author><name sortKey="Breuning, M H" sort="Breuning, M H" uniqKey="Breuning M" first="M H" last="Breuning">M H Breuning</name></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="1993">1993</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. We investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients with a deletion to those in individuals in whom deletions were not detectable. Molecular studies showed a copy of chromosome 16 from each parent in all 19 patients. Uniparental disomy was also excluded for five other chromosome arms known to be imprinted in mice. None of the probes used for determining the origin of the deleted chromosome proved to be informative. The clinical features were essentially the same in patients with and without visible deletion, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces. A small deletion at 16p13.3 may be found in some patients with Rubinstein-Taybi syndrome. Cytogenetically undetectable deletions, point mutations, mosaicism, heterogeneity, or phenocopy by a nongenetic cause are the most probable explanations for the absence of cytogenetic or molecular abnormalities in other patients with Rubinstein-Taybi syndrome.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Figure 1</label><graphic xlink:href="ajhg00060-0016-a" xlink:role="258"></graphic></fig><fig id="F2"><label>Figure 2</label><graphic xlink:href="ajhg00060-0018-a" xlink:role="260"></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">Am J Hum Genet</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn></journal-meta><article-meta><article-id pub-id-type="pmid">8430692</article-id><article-id pub-id-type="pmc">1682213</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Hennekam</surname><given-names>R C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Tilanus</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hamel</surname><given-names>B C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Voshart-van Heeren</surname><given-names>H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mariman</surname><given-names>E C</given-names></name></contrib><contrib contrib-type="author"><name><surname>van Beersum</surname><given-names>S E</given-names></name></contrib><contrib contrib-type="author"><name><surname>van den Boogaard</surname><given-names>M J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Breuning</surname><given-names>M H</given-names></name></contrib></contrib-group><aff>Clinical Genetics Center Utrecht, The Netherlands.</aff><pub-date pub-type="ppub"><month>2</month><year>1993</year></pub-date><volume>52</volume><issue>2</issue><fpage>255</fpage><lpage>262</lpage><abstract><p>In the accompanying paper, a chromosomal localization of the Rubinstein-Taybi syndrome by cytogenetic investigations with fluorescence in situ hybridization techniques at chromosome 16p13.3 is described. We investigated 19 of these patients and their parents (a) to ascertain the parental origin of the chromosome with the deletion in families where such a deletion was detected, (b) to disclose whether uniparental disomy plays a role in etiology, and (c) to compare clinical features in patients with a deletion to those in individuals in whom deletions were not detectable. Molecular studies showed a copy of chromosome 16 from each parent in all 19 patients. Uniparental disomy was also excluded for five other chromosome arms known to be imprinted in mice. None of the probes used for determining the origin of the deleted chromosome proved to be informative. The clinical features were essentially the same in patients with and without visible deletion, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces. A small deletion at 16p13.3 may be found in some patients with Rubinstein-Taybi syndrome. Cytogenetically undetectable deletions, point mutations, mosaicism, heterogeneity, or phenocopy by a nongenetic cause are the most probable explanations for the absence of cytogenetic or molecular abnormalities in other patients with Rubinstein-Taybi syndrome.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Figure 1</label><graphic xlink:href="ajhg00060-0016-a" xlink:role="258"></graphic></fig><fig id="F2"><label>Figure 2</label><graphic xlink:href="ajhg00060-0018-a" xlink:role="260"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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