Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.
Identifieur interne : 008991 ( Ncbi/Merge ); précédent : 008990; suivant : 008992Selected 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
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pubmed:27828687Le document en format XML
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<author><name sortKey="Irzyniec, Tomasz" sort="Irzyniec, Tomasz" uniqKey="Irzyniec T" first="Tomasz" last="Irzyniec">Tomasz Irzyniec</name>
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<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>
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<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>
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<term>Syndrome de Turner</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
<term>Mouth Abnormalities</term>
<term>Turner Syndrome</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Malformations de la bouche</term>
<term>Syndrome de Turner</term>
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<term>Humans</term>
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<term>Young Adult</term>
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<term>Adulte</term>
<term>Caryotype</term>
<term>Chromosomes humains</term>
<term>Femelle</term>
<term>Humains</term>
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<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>
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<JournalIssue CitedMedium="Internet"><Volume>68</Volume>
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<PubDate><Year>2017</Year>
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<Title>Endokrynologia Polska</Title>
<ISOAbbreviation>Endokrynol Pol</ISOAbbreviation>
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<ArticleTitle>Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.</ArticleTitle>
<Pagination><MedlinePgn>47-52</MedlinePgn>
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<Abstract><AbstractText Label="INTRODUCTION">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.</AbstractText>
<AbstractText Label="MATERIAL AND METHODS">Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014.</AbstractText>
<AbstractText Label="RESULTS">Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups.</AbstractText>
<AbstractText Label="CONCLUSIONS">With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).</AbstractText>
</Abstract>
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<ForeName>Agnieszka</ForeName>
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<Author ValidYN="Y"><LastName>Jeż</LastName>
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<MeshHeading><DescriptorName UI="D014424" MajorTopicYN="N">Turner Syndrome</DescriptorName>
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<Keyword MajorTopicYN="Y">X/46</Keyword>
<Keyword MajorTopicYN="Y">XY karyotype</Keyword>
<Keyword MajorTopicYN="Y">head</Keyword>
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