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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Small deletions of the short arm of the Y chromosome in 46,XY females.</title>
<author><name sortKey="Disteche, C M" sort="Disteche, C M" uniqKey="Disteche C" first="C M" last="Disteche">C M Disteche</name>
</author>
<author><name sortKey="Casanova, M" sort="Casanova, M" uniqKey="Casanova M" first="M" last="Casanova">M. Casanova</name>
</author>
<author><name sortKey="Saal, H" sort="Saal, H" uniqKey="Saal H" first="H" last="Saal">H. Saal</name>
</author>
<author><name sortKey="Friedman, C" sort="Friedman, C" uniqKey="Friedman C" first="C" last="Friedman">C. Friedman</name>
</author>
<author><name sortKey="Sybert, V" sort="Sybert, V" uniqKey="Sybert V" first="V" last="Sybert">V. Sybert</name>
</author>
<author><name sortKey="Graham, J" sort="Graham, J" uniqKey="Graham J" first="J" last="Graham">J. Graham</name>
</author>
<author><name sortKey="Thuline, H" sort="Thuline, H" uniqKey="Thuline H" first="H" last="Thuline">H. Thuline</name>
</author>
<author><name sortKey="Page, D C" sort="Page, D C" uniqKey="Page D" first="D C" last="Page">D C Page</name>
</author>
<author><name sortKey="Fellous, M" sort="Fellous, M" uniqKey="Fellous M" first="M" last="Fellous">M. Fellous</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">3464001</idno>
<idno type="pmc">386818</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC386818</idno>
<idno type="RBID">PMC:386818</idno>
<date when="1986">1986</date>
<idno type="wicri:Area/Pmc/Corpus">001A05</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001A05</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Small deletions of the short arm of the Y chromosome in 46,XY females.</title>
<author><name sortKey="Disteche, C M" sort="Disteche, C M" uniqKey="Disteche C" first="C M" last="Disteche">C M Disteche</name>
</author>
<author><name sortKey="Casanova, M" sort="Casanova, M" uniqKey="Casanova M" first="M" last="Casanova">M. Casanova</name>
</author>
<author><name sortKey="Saal, H" sort="Saal, H" uniqKey="Saal H" first="H" last="Saal">H. Saal</name>
</author>
<author><name sortKey="Friedman, C" sort="Friedman, C" uniqKey="Friedman C" first="C" last="Friedman">C. Friedman</name>
</author>
<author><name sortKey="Sybert, V" sort="Sybert, V" uniqKey="Sybert V" first="V" last="Sybert">V. Sybert</name>
</author>
<author><name sortKey="Graham, J" sort="Graham, J" uniqKey="Graham J" first="J" last="Graham">J. Graham</name>
</author>
<author><name sortKey="Thuline, H" sort="Thuline, H" uniqKey="Thuline H" first="H" last="Thuline">H. Thuline</name>
</author>
<author><name sortKey="Page, D C" sort="Page, D C" uniqKey="Page D" first="D C" last="Page">D C Page</name>
</author>
<author><name sortKey="Fellous, M" sort="Fellous, M" uniqKey="Fellous M" first="M" last="Fellous">M. Fellous</name>
</author>
</analytic>
<series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title>
<idno type="ISSN">0027-8424</idno>
<idno type="eISSN">1091-6490</idno>
<imprint><date when="1986">1986</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from small deletions of the short arm of the Y chromosome. Prometaphase chromosome analysis showed a 46,X,Yp- karyotype. Several Y chromosome-specific DNA probes were found to be deleted in the two female patients. DNA analysis showed that the two deletions were different but included a common overlapping region likely to be essential for male determination.</p>
<sec sec-type="scanned-figures"><title>Images</title>
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</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">Proc Natl Acad Sci U S A</journal-id>
<journal-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title>
<issn pub-type="ppub">0027-8424</issn>
<issn pub-type="epub">1091-6490</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">3464001</article-id>
<article-id pub-id-type="pmc">386818</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Small deletions of the short arm of the Y chromosome in 46,XY females.</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Disteche</surname>
<given-names>C M</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Casanova</surname>
<given-names>M</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Saal</surname>
<given-names>H</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Friedman</surname>
<given-names>C</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Sybert</surname>
<given-names>V</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Graham</surname>
<given-names>J</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Thuline</surname>
<given-names>H</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Page</surname>
<given-names>D C</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Fellous</surname>
<given-names>M</given-names>
</name>
</contrib>
</contrib-group>
<pub-date pub-type="ppub"><month>10</month>
<year>1986</year>
</pub-date>
<volume>83</volume>
<issue>20</issue>
<fpage>7841</fpage>
<lpage>7844</lpage>
<abstract><p>Structural anomalies of the sex chromosomes provide a means to study the location of genes responsible for sex determination. Recently, a type of sex reversal in humans, the 46,XX male, was shown to result in some cases from translocation of Y chromosome material to the X chromosome. In the present report, another type of sex reversal, the 46,XY female, is shown to result, in two cases, from small deletions of the short arm of the Y chromosome. Prometaphase chromosome analysis showed a 46,X,Yp- karyotype. Several Y chromosome-specific DNA probes were found to be deleted in the two female patients. DNA analysis showed that the two deletions were different but included a common overlapping region likely to be essential for male determination.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><graphic xlink:href="pnas00324-0286-a" xlink:role="7842"></graphic>
</fig>
<fig id="F2"><graphic xlink:href="pnas00324-0286-b" xlink:role="7842"></graphic>
</fig>
<fig id="F3"><graphic xlink:href="pnas00324-0287-a" xlink:role="7843"></graphic>
</fig>
<fig id="F4"><graphic xlink:href="pnas00324-0287-b" xlink:role="7843"></graphic>
</fig>
<fig id="F5"><graphic xlink:href="pnas00324-0287-c" xlink:role="7843"></graphic>
</fig>
<fig id="F6"><graphic xlink:href="pnas00324-0287-d" xlink:role="7843"></graphic>
</fig>
</sec>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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