Absence of Turner stigmata in a 46,XYp-female
Identifieur interne : 00D419 ( Main/Exploration ); précédent : 00D418; suivant : 00D420Absence of Turner stigmata in a 46,XYp-female
Auteurs : Ulrich Müller [États-Unis] ; Vincent G. H. J. Kirkels [Pays-Bas] ; Jacques M. J. Scheres [Pays-Bas]Source :
- Human Genetics [ 0340-6717 ] ; 1992-11-01.
Abstract
Abstract: A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.
Url:
DOI: 10.1007/BF00220069
Affiliations:
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H. J." last="Kirkels">Vincent G. H. J. Kirkels</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Gynecology and Obstetrics, St. Radboud Hospital, Catholic University Nijmegen, Nijmegen</wicri:regionArea><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Scheres, Jacques M J" sort="Scheres, Jacques M J" uniqKey="Scheres J" first="Jacques M. J." last="Scheres">Jacques M. J. Scheres</name><affiliation wicri:level="1"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, State University Maastricht, Maastricht</wicri:regionArea><wicri:noRegion>Maastricht</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Genetics</title><title level="j" type="abbrev">Hum Genet</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="1992-11-01">1992-11-01</date><biblScope unit="volume">90</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="239">239</biblScope><biblScope unit="page" to="242">242</biblScope></imprint><idno type="ISSN">0340-6717</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.</div></front></TEI><affiliations><list><country><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Gueldre</li><li>Massachusetts</li></region><settlement><li>Nimègue</li></settlement></list><tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name></region></country><country name="Pays-Bas"><region name="Gueldre"><name sortKey="Kirkels, Vincent G H J" sort="Kirkels, Vincent G H J" uniqKey="Kirkels V" first="Vincent G. H. J." last="Kirkels">Vincent G. H. J. Kirkels</name></region><name sortKey="Scheres, Jacques M J" sort="Scheres, Jacques M J" uniqKey="Scheres J" first="Jacques M. J." last="Scheres">Jacques M. J. Scheres</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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