Small deletions of the short arm of the Y chromosome in 46,XY females.
Identifieur interne : 00E966 ( Main/Exploration ); précédent : 00E965; suivant : 00E967Small deletions of the short arm of the Y chromosome in 46,XY females.
Auteurs : C M Disteche ; M. Casanova ; H. Saal ; C. Friedman ; V. Sybert ; J. Graham ; H. Thuline ; D C Page ; M. FellousSource :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 1986.
Abstract
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.
Url:
PubMed: 3464001
PubMed Central: 386818
Affiliations:
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Le document en format XML
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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. 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Casanova</name><name sortKey="Disteche, C M" sort="Disteche, C M" uniqKey="Disteche C" first="C M" last="Disteche">C M Disteche</name><name sortKey="Fellous, M" sort="Fellous, M" uniqKey="Fellous M" first="M" last="Fellous">M. Fellous</name><name sortKey="Friedman, C" sort="Friedman, C" uniqKey="Friedman C" first="C" last="Friedman">C. Friedman</name><name sortKey="Graham, J" sort="Graham, J" uniqKey="Graham J" first="J" last="Graham">J. Graham</name><name sortKey="Page, D C" sort="Page, D C" uniqKey="Page D" first="D C" last="Page">D C Page</name><name sortKey="Saal, H" sort="Saal, H" uniqKey="Saal H" first="H" last="Saal">H. Saal</name><name sortKey="Sybert, V" sort="Sybert, V" uniqKey="Sybert V" first="V" last="Sybert">V. Sybert</name><name sortKey="Thuline, H" sort="Thuline, H" uniqKey="Thuline H" first="H" last="Thuline">H. Thuline</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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