Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1
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Auteurs : Andrew R. Zinn [États-Unis] ; Vijay S. Tonk ; Zhong Chen ; Wendy L. Flejter ; H. Allen Gardner ; Rudy Guerra ; Harvey Kushner [États-Unis] ; Stuart Schwartz ; Virginia P. Sybert ; Daniel L. Van Dyke ; Judith L. Ross [États-Unis]Source :
- The American Journal of Human Genetics [ 0002-9297 ] ; 1998.
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Abstract
SummaryTurner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease. We studied 28 apparently nonmosaic subjects with partial deletions of Xp, in order to map loci responsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome features, and their deletions were mapped by FISH with a panel of Xp markers. Using a statistical method to examine genotype/phenotype correlations, we mapped one or more Turner syndrome traits to a critical region in Xp11.2-p22.1. These traits included short stature, ovarian failure, high-arched palate, and autoimmune thyroid disease. The results are useful for genetic counseling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a rational basis for exploration of candidate genes.
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DOI: 10.1086/302152
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Vijay S. Tonk<affiliation><mods:affiliation>Departments of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock</mods:affiliation><wicri:noCountry code="subField">Lubbock</wicri:noCountry></affiliation><affiliation><mods:affiliation>Genzyme Genetics, Santa Fe</mods:affiliation><wicri:noCountry code="subField">Fe</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Pediatrics, University of Utah, Salt Lake City</mods:affiliation><wicri:noCountry code="subField">City</wicri:noCountry></affiliation><affiliation><mods:affiliation>Oshawa General Hospital, Oshawa, Ontario, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto</mods:affiliation><wicri:noCountry code="subField">Toronto</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Statistical Science, Southern Methodist University, Dallas</mods:affiliation><wicri:noCountry code="subField">Dallas</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Case Western Reserve University, Cleveland</mods:affiliation><wicri:noCountry code="subField">Cleveland</wicri:noCountry></affiliation><affiliation><mods:affiliation>Departments of Genetics and Dermatology, University of Washington, Seattle</mods:affiliation><wicri:noCountry code="subField">Seattle</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, Henry Ford Hospital, Detroit</mods:affiliation><wicri:noCountry code="subField">Detroit</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1</title><author><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R." last="Zinn">Andrew R. Zinn</name><affiliation wicri:level="1"><mods:affiliation>E-mail: Andrew.Zinn@email.swmed.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation><affiliation><mods:affiliation>Eugene McDermott Center for Human Growth and Development and Department of Internal Medicine, The University of Texas Southwestern Medical School</mods:affiliation><wicri:noCountry code="subField">School</wicri:noCountry></affiliation></author><author><name sortKey="Tonk, Vijay S" sort="Tonk, Vijay S" uniqKey="Tonk V" first="Vijay S." last="Tonk">Vijay S. Tonk</name><affiliation><mods:affiliation>Departments of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock</mods:affiliation><wicri:noCountry code="subField">Lubbock</wicri:noCountry></affiliation></author><author><name sortKey="Chen, Zhong" sort="Chen, Zhong" uniqKey="Chen Z" first="Zhong" last="Chen">Zhong Chen</name><affiliation><mods:affiliation>Genzyme Genetics, Santa Fe</mods:affiliation><wicri:noCountry code="subField">Fe</wicri:noCountry></affiliation></author><author><name sortKey="Flejter, Wendy L" sort="Flejter, Wendy L" uniqKey="Flejter W" first="Wendy L." last="Flejter">Wendy L. Flejter</name><affiliation><mods:affiliation>Department of Pediatrics, University of Utah, Salt Lake City</mods:affiliation><wicri:noCountry code="subField">City</wicri:noCountry></affiliation></author><author><name sortKey="Gardner, H Allen" sort="Gardner, H Allen" uniqKey="Gardner H" first="H. Allen" last="Gardner">H. Allen Gardner</name><affiliation><mods:affiliation>Oshawa General Hospital, Oshawa, Ontario, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto</mods:affiliation><wicri:noCountry code="subField">Toronto</wicri:noCountry></affiliation></author><author><name sortKey="Guerra, Rudy" sort="Guerra, Rudy" uniqKey="Guerra R" first="Rudy" last="Guerra">Rudy Guerra</name><affiliation><mods:affiliation>Department of Statistical Science, Southern Methodist University, Dallas</mods:affiliation><wicri:noCountry code="subField">Dallas</wicri:noCountry></affiliation></author><author><name sortKey="Kushner, Harvey" sort="Kushner, Harvey" uniqKey="Kushner H" first="Harvey" last="Kushner">Harvey Kushner</name><affiliation wicri:level="3"><mods:affiliation>Biomedical Computing Thomas Jefferson University, Philadelphia</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Biomedical Computing Thomas Jefferson University</wicri:orgArea></affiliation></author><author><name sortKey="Schwartz, Stuart" sort="Schwartz, Stuart" uniqKey="Schwartz S" first="Stuart" last="Schwartz">Stuart Schwartz</name><affiliation><mods:affiliation>Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Case Western Reserve University, Cleveland</mods:affiliation><wicri:noCountry code="subField">Cleveland</wicri:noCountry></affiliation></author><author><name sortKey="Sybert, Virginia P" sort="Sybert, Virginia P" uniqKey="Sybert V" first="Virginia P." last="Sybert">Virginia P. Sybert</name><affiliation><mods:affiliation>Departments of Genetics and Dermatology, University of Washington, Seattle</mods:affiliation><wicri:noCountry code="subField">Seattle</wicri:noCountry></affiliation></author><author><name sortKey="Van Dyke, Daniel L" sort="Van Dyke, Daniel L" uniqKey="Van Dyke D" first="Daniel L." last="Van Dyke">Daniel L. Van Dyke</name><affiliation><mods:affiliation>Department of Medical Genetics, Henry Ford Hospital, Detroit</mods:affiliation><wicri:noCountry code="subField">Detroit</wicri:noCountry></affiliation></author><author><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L." last="Ross">Judith L. Ross</name><affiliation wicri:level="3"><mods:affiliation>Department of Pediatrics, Thomas Jefferson University, Philadelphia</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Pediatrics, Thomas Jefferson University</wicri:orgArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:A9C4E5A4FBB921A5AFB0F9BBF7DD7D252CC9A373</idno><date when="1998" year="1998">1998</date><idno type="doi">10.1086/302152</idno><idno type="url">https://api.istex.fr/document/A9C4E5A4FBB921A5AFB0F9BBF7DD7D252CC9A373/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">004F93</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">004F93</idno><idno type="wicri:Area/Istex/Curation">004F93</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1</title><author><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R." last="Zinn">Andrew R. Zinn</name><affiliation wicri:level="1"><mods:affiliation>E-mail: Andrew.Zinn@email.swmed.edu</mods:affiliation><country wicri:rule="url">États-Unis</country></affiliation><affiliation><mods:affiliation>Eugene McDermott Center for Human Growth and Development and Department of Internal Medicine, The University of Texas Southwestern Medical School</mods:affiliation></affiliation></author><author><name sortKey="Tonk, Vijay S" sort="Tonk, Vijay S" uniqKey="Tonk V" first="Vijay S." last="Tonk">Vijay S. Tonk</name><affiliation><mods:affiliation>Departments of Pediatrics and Pathology, Texas Tech University Health Sciences Center, Lubbock</mods:affiliation><wicri:noCountry code="subField">Lubbock</wicri:noCountry></affiliation></author><author><name sortKey="Chen, Zhong" sort="Chen, Zhong" uniqKey="Chen Z" first="Zhong" last="Chen">Zhong Chen</name><affiliation><mods:affiliation>Genzyme Genetics, Santa Fe</mods:affiliation><wicri:noCountry code="subField">Fe</wicri:noCountry></affiliation></author><author><name sortKey="Flejter, Wendy L" sort="Flejter, Wendy L" uniqKey="Flejter W" first="Wendy L." last="Flejter">Wendy L. Flejter</name><affiliation><mods:affiliation>Department of Pediatrics, University of Utah, Salt Lake City</mods:affiliation><wicri:noCountry code="subField">City</wicri:noCountry></affiliation></author><author><name sortKey="Gardner, H Allen" sort="Gardner, H Allen" uniqKey="Gardner H" first="H. Allen" last="Gardner">H. Allen Gardner</name><affiliation><mods:affiliation>Oshawa General Hospital, Oshawa, Ontario, and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto</mods:affiliation><wicri:noCountry code="subField">Toronto</wicri:noCountry></affiliation></author><author><name sortKey="Guerra, Rudy" sort="Guerra, Rudy" uniqKey="Guerra R" first="Rudy" last="Guerra">Rudy Guerra</name><affiliation><mods:affiliation>Department of Statistical Science, Southern Methodist University, Dallas</mods:affiliation><wicri:noCountry code="subField">Dallas</wicri:noCountry></affiliation></author><author><name sortKey="Kushner, Harvey" sort="Kushner, Harvey" uniqKey="Kushner H" first="Harvey" last="Kushner">Harvey Kushner</name><affiliation wicri:level="3"><mods:affiliation>Biomedical Computing Thomas Jefferson University, Philadelphia</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Biomedical Computing Thomas Jefferson University</wicri:orgArea></affiliation></author><author><name sortKey="Schwartz, Stuart" sort="Schwartz, Stuart" uniqKey="Schwartz S" first="Stuart" last="Schwartz">Stuart Schwartz</name><affiliation><mods:affiliation>Department of Genetics and Center for Human Genetics, Case Western Reserve University and University Hospitals of Case Western Reserve University, Cleveland</mods:affiliation><wicri:noCountry code="subField">Cleveland</wicri:noCountry></affiliation></author><author><name sortKey="Sybert, Virginia P" sort="Sybert, Virginia P" uniqKey="Sybert V" first="Virginia P." last="Sybert">Virginia P. Sybert</name><affiliation><mods:affiliation>Departments of Genetics and Dermatology, University of Washington, Seattle</mods:affiliation><wicri:noCountry code="subField">Seattle</wicri:noCountry></affiliation></author><author><name sortKey="Van Dyke, Daniel L" sort="Van Dyke, Daniel L" uniqKey="Van Dyke D" first="Daniel L." last="Van Dyke">Daniel L. Van Dyke</name><affiliation><mods:affiliation>Department of Medical Genetics, Henry Ford Hospital, Detroit</mods:affiliation><wicri:noCountry code="subField">Detroit</wicri:noCountry></affiliation></author><author><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L." last="Ross">Judith L. Ross</name><affiliation wicri:level="3"><mods:affiliation>Department of Pediatrics, Thomas Jefferson University, Philadelphia</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Department of Pediatrics, Thomas Jefferson University</wicri:orgArea></affiliation></author></analytic><monogr></monogr><series><title level="j">The American Journal of Human Genetics</title><title level="j" type="abbrev">AJHG</title><idno type="ISSN">0002-9297</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1998">1998</date><biblScope unit="volume">63</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1757">1757</biblScope><biblScope unit="page" to="1766">1766</biblScope></imprint><idno type="ISSN">0002-9297</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aneuploidy</term><term>Gonadal dysgenesis</term><term>Haploinsufficiency</term><term>Sex-chromosome abnormalities</term><term>Turner syndrome</term><term>X chromosome</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">SummaryTurner syndrome is the complex human phenotype associated with complete or partial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease. We studied 28 apparently nonmosaic subjects with partial deletions of Xp, in order to map loci responsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome features, and their deletions were mapped by FISH with a panel of Xp markers. Using a statistical method to examine genotype/phenotype correlations, we mapped one or more Turner syndrome traits to a critical region in Xp11.2-p22.1. These traits included short stature, ovarian failure, high-arched palate, and autoimmune thyroid disease. The results are useful for genetic counseling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a rational basis for exploration of candidate genes.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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