Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.
Identifieur interne : 000522 ( PubMed/Corpus ); précédent : 000521; suivant : 000523Selected 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 IrzyniecSource :
- Endokrynologia Polska [ 2299-8306 ] ; 2017.
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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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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27828687</PMID><DateCreated><Year>2016</Year><Month>11</Month><Day>09</Day></DateCreated><DateCompleted><Year>2017</Year><Month>05</Month><Day>04</Day></DateCompleted><DateRevised><Year>2017</Year><Month>05</Month><Day>10</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">2299-8306</ISSN><JournalIssue CitedMedium="Internet"><Volume>68</Volume><Issue>1</Issue><PubDate><Year>2017</Year></PubDate></JournalIssue><Title>Endokrynologia Polska</Title><ISOAbbreviation>Endokrynol Pol</ISOAbbreviation></Journal><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></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.5603/EP.a2016.0063</ELocationID><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><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Frelich</LastName><ForeName>Agnieszka</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Frelich</LastName><ForeName>Jakub</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Jeż</LastName><ForeName>Wacław</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Irzyniec</LastName><ForeName>Tomasz</ForeName><Initials>T</Initials><AffiliationInfo><Affiliation>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, Poland. tirzyniec@sum.edu.pl.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>11</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>Poland</Country><MedlineTA>Endokrynol Pol</MedlineTA><NlmUniqueID>0370674</NlmUniqueID><ISSNLinking>0423-104X</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002877" MajorTopicYN="Y">Chromosomes, Human</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D059785" MajorTopicYN="Y">Karyotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009056" MajorTopicYN="N">Mouth Abnormalities</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014424" MajorTopicYN="N">Turner Syndrome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="Y">45</Keyword><Keyword MajorTopicYN="Y">Turner syndrome</Keyword><Keyword MajorTopicYN="Y">X/46</Keyword><Keyword MajorTopicYN="Y">XY karyotype</Keyword><Keyword MajorTopicYN="Y">head</Keyword><Keyword MajorTopicYN="Y">neck</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>05</Month><Day>15</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>06</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>11</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>5</Month><Day>5</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>11</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27828687</ArticleId><ArticleId IdType="pii">VM/OJS/J/47200</ArticleId><ArticleId IdType="doi">10.5603/EP.a2016.0063</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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