Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1
Identifieur interne : 00B524 ( Main/Exploration ); précédent : 00B523; suivant : 00B525Evidence for a Turner Syndrome Locus or Loci at Xp11.2-p22.1
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.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Autoanticorps (analyse), Cartographie chromosomique, Centromère (génétique), Chromosome X (génétique), Compensation de dosage génétique, Coude (malformations), Délétion de segment de chromosome, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Insuffisance ovarienne primitive (génétique), Liaison génétique, Maladies de la thyroïde (génétique), Maladies de la thyroïde (immunologie), Marqueurs génétiques, Méthylation de l'ADN, Nourrisson, Palais (malformations), Syndrome de Turner (anatomopathologie), Syndrome de Turner (génétique), Syndrome de Turner (immunologie), Taille (génétique), Technique FISH, Études de cohortes.
- MESH :
- analyse : Autoanticorps.
- anatomopathologie : Syndrome de Turner.
- génétique : Centromère, Chromosome X, Insuffisance ovarienne primitive, Maladies de la thyroïde, Syndrome de Turner, Taille.
- immunologie : Maladies de la thyroïde, Syndrome de Turner.
- malformations : Coude, Palais.
- Adolescent, Adulte, Adulte d'âge moyen, Cartographie chromosomique, Compensation de dosage génétique, Délétion de segment de chromosome, Enfant, Enfant d'âge préscolaire, Femelle, Génotype, Humains, Liaison génétique, Marqueurs génétiques, Méthylation de l'ADN, Nourrisson, Technique FISH, Études de cohortes.
English descriptors
- KwdEn :
- Adolescent, Adult, Aneuploidy, Autoantibodies (analysis), Body Height (genetics), Centromere (genetics), Child, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Cohort Studies, DNA Methylation, Dosage Compensation, Genetic, Elbow (abnormalities), Female, Genetic Linkage, Genetic Markers, Genotype, Gonadal dysgenesis, Haploinsufficiency, Humans, In Situ Hybridization, Fluorescence, Infant, Middle Aged, Palate (abnormalities), Primary Ovarian Insufficiency (genetics), Sex-chromosome abnormalities, Thyroid Diseases (genetics), Thyroid Diseases (immunology), Turner Syndrome (genetics), Turner Syndrome (immunology), Turner Syndrome (pathology), Turner syndrome, X Chromosome (genetics), X chromosome.
- MESH :
- chemical , analysis : Autoantibodies.
- abnormalities : Elbow, Palate.
- genetics : Body Height, Centromere, Primary Ovarian Insufficiency, Thyroid Diseases, Turner Syndrome, X Chromosome.
- immunology : Thyroid Diseases, Turner Syndrome.
- pathology : Turner Syndrome.
- Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosome Mapping, Cohort Studies, DNA Methylation, Dosage Compensation, Genetic, Female, Genetic Linkage, Genetic Markers, Genotype, Humans, In Situ Hybridization, Fluorescence, Infant, Middle Aged.
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.
Url:
- https://api.istex.fr/document/A9C4E5A4FBB921A5AFB0F9BBF7DD7D252CC9A373/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1377648
DOI: 10.1086/302152
Affiliations:
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Zinn</name><affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country></affiliation><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><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><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><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><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><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"><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><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><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><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"><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>Adolescent</term><term>Adult</term><term>Aneuploidy</term><term>Autoantibodies (analysis)</term><term>Body Height (genetics)</term><term>Centromere (genetics)</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Cohort Studies</term><term>DNA Methylation</term><term>Dosage Compensation, Genetic</term><term>Elbow (abnormalities)</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Genotype</term><term>Gonadal dysgenesis</term><term>Haploinsufficiency</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Infant</term><term>Middle Aged</term><term>Palate (abnormalities)</term><term>Primary Ovarian Insufficiency (genetics)</term><term>Sex-chromosome abnormalities</term><term>Thyroid Diseases (genetics)</term><term>Thyroid Diseases (immunology)</term><term>Turner Syndrome (genetics)</term><term>Turner Syndrome (immunology)</term><term>Turner Syndrome (pathology)</term><term>Turner syndrome</term><term>X Chromosome (genetics)</term><term>X chromosome</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Autoanticorps (analyse)</term><term>Cartographie chromosomique</term><term>Centromère (génétique)</term><term>Chromosome X (génétique)</term><term>Compensation de dosage génétique</term><term>Coude (malformations)</term><term>Délétion de segment de chromosome</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Insuffisance ovarienne primitive (génétique)</term><term>Liaison génétique</term><term>Maladies de la thyroïde (génétique)</term><term>Maladies de la thyroïde (immunologie)</term><term>Marqueurs génétiques</term><term>Méthylation de l'ADN</term><term>Nourrisson</term><term>Palais (malformations)</term><term>Syndrome de Turner (anatomopathologie)</term><term>Syndrome de Turner (génétique)</term><term>Syndrome de Turner (immunologie)</term><term>Taille (génétique)</term><term>Technique FISH</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Autoantibodies</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Elbow</term><term>Palate</term></keywords><keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>Autoanticorps</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Body Height</term><term>Centromere</term><term>Primary Ovarian Insufficiency</term><term>Thyroid Diseases</term><term>Turner Syndrome</term><term>X Chromosome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Centromère</term><term>Chromosome X</term><term>Insuffisance ovarienne primitive</term><term>Maladies de la thyroïde</term><term>Syndrome de Turner</term><term>Taille</term></keywords><keywords scheme="MESH" qualifier="immunologie" xml:lang="fr"><term>Maladies de la thyroïde</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="immunology" xml:lang="en"><term>Thyroid Diseases</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Coude</term><term>Palais</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Turner Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Cohort Studies</term><term>DNA Methylation</term><term>Dosage Compensation, Genetic</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Markers</term><term>Genotype</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Infant</term><term>Middle Aged</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Cartographie chromosomique</term><term>Compensation de dosage génétique</term><term>Délétion de segment de chromosome</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Liaison génétique</term><term>Marqueurs génétiques</term><term>Méthylation de l'ADN</term><term>Nourrisson</term><term>Technique FISH</term><term>Études de cohortes</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><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region><settlement><li>Philadelphie</li></settlement></list><tree><noCountry><name sortKey="Chen, Zhong" sort="Chen, Zhong" uniqKey="Chen Z" first="Zhong" last="Chen">Zhong Chen</name><name sortKey="Flejter, Wendy L" sort="Flejter, Wendy L" uniqKey="Flejter W" first="Wendy L." last="Flejter">Wendy L. Flejter</name><name sortKey="Gardner, H Allen" sort="Gardner, H Allen" uniqKey="Gardner H" first="H. Allen" last="Gardner">H. Allen Gardner</name><name sortKey="Guerra, Rudy" sort="Guerra, Rudy" uniqKey="Guerra R" first="Rudy" last="Guerra">Rudy Guerra</name><name sortKey="Schwartz, Stuart" sort="Schwartz, Stuart" uniqKey="Schwartz S" first="Stuart" last="Schwartz">Stuart Schwartz</name><name sortKey="Sybert, Virginia P" sort="Sybert, Virginia P" uniqKey="Sybert V" first="Virginia P." last="Sybert">Virginia P. Sybert</name><name sortKey="Tonk, Vijay S" sort="Tonk, Vijay S" uniqKey="Tonk V" first="Vijay S." last="Tonk">Vijay S. Tonk</name><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></noCountry><country name="États-Unis"><noRegion><name sortKey="Zinn, Andrew R" sort="Zinn, Andrew R" uniqKey="Zinn A" first="Andrew R." last="Zinn">Andrew R. Zinn</name></noRegion><name sortKey="Kushner, Harvey" sort="Kushner, Harvey" uniqKey="Kushner H" first="Harvey" last="Kushner">Harvey Kushner</name><name sortKey="Ross, Judith L" sort="Ross, Judith L" uniqKey="Ross J" first="Judith L." last="Ross">Judith L. Ross</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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