Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.
Identifieur interne : 000195 ( Main/Exploration ); précédent : 000194; suivant : 000196Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.
Auteurs : Agnieszka Frelich ; Jakub Frelich ; Wacław Je ; Tomasz Irzyniec [Pologne]Source :
- Endokrynologia Polska [ 2299-8306 ] ; 2017.
Descripteurs français
- KwdFr :
- MESH :
- anatomopathologie : Malformations de la bouche, Syndrome de Turner.
- génétique : Lymphoedème, Malformations de la bouche, Syndrome de Turner.
- Adolescent, Adulte, Caryotype, Chromosomes humains, Femelle, Humains, Jeune adulte.
English descriptors
- KwdEn :
- MESH :
- genetics : Lymphedema, Mouth Abnormalities, Turner Syndrome.
- pathology : Mouth Abnormalities, Turner Syndrome.
- Adolescent, Adult, Chromosomes, Human, Female, Humans, Karyotype, Young Adult.
Abstract
A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it.
DOI: 10.5603/EP.a2016.0063
PubMed: 27828687
Affiliations:
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Le document en format XML
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Department of Nephrology/ENDO Hospital of the Ministry of Interior Affairs, Katowice, Poland. tirzyniec@sum.edu.pl.</nlm:affiliation><country xml:lang="fr">Pologne</country><wicri:regionArea>Department of Health Promotion and Community Nursing, Faculty of Health Sciences, Medical University of Silesia, Katowice, Poland; Department of Nephrology/ENDO Hospital of the Ministry of Interior Affairs, Katowice</wicri:regionArea><wicri:noRegion>Katowice</wicri:noRegion></affiliation></author></analytic><series><title level="j">Endokrynologia Polska</title><idno type="eISSN">2299-8306</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Chromosomes, Human</term><term>Female</term><term>Humans</term><term>Karyotype</term><term>Lymphedema (genetics)</term><term>Mouth Abnormalities (genetics)</term><term>Mouth Abnormalities (pathology)</term><term>Turner Syndrome (genetics)</term><term>Turner Syndrome (pathology)</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Caryotype</term><term>Chromosomes humains</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term><term>Lymphoedème (génétique)</term><term>Malformations de la bouche (anatomopathologie)</term><term>Malformations de la bouche (génétique)</term><term>Syndrome de Turner (anatomopathologie)</term><term>Syndrome de Turner (génétique)</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Malformations de la bouche</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term><term>Mouth Abnormalities</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Malformations de la bouche</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mouth Abnormalities</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Chromosomes, Human</term><term>Female</term><term>Humans</term><term>Karyotype</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Caryotype</term><term>Chromosomes humains</term><term>Femelle</term><term>Humains</term><term>Jeune adulte</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it.</div></front></TEI><affiliations><list><country><li>Pologne</li></country></list><tree><noCountry><name sortKey="Frelich, Agnieszka" sort="Frelich, Agnieszka" uniqKey="Frelich A" first="Agnieszka" last="Frelich">Agnieszka Frelich</name><name sortKey="Frelich, Jakub" sort="Frelich, Jakub" uniqKey="Frelich J" first="Jakub" last="Frelich">Jakub Frelich</name><name sortKey="Je, Waclaw" sort="Je, Waclaw" uniqKey="Je W" first="Wacław" last="Je">Wacław Je</name></noCountry><country name="Pologne"><noRegion><name sortKey="Irzyniec, Tomasz" sort="Irzyniec, Tomasz" uniqKey="Irzyniec T" first="Tomasz" last="Irzyniec">Tomasz Irzyniec</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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