Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
Identifieur interne : 004743 ( PubMed/Curation ); précédent : 004742; suivant : 004744Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
Auteurs : C A Boucher [Royaume-Uni] ; C A Sargent ; T. Ogata ; N A AffaraSource :
- Journal of medical genetics [ 1468-6244 ] ; 2001.
Descripteurs français
- KwdFr :
- Bases de données d'acides nucléiques, Cartographie chromosomique, Caryotypage, Cassure de chromosome (génétique), Chromosome X (génétique), Compensation de dosage génétique, Délétion de segment de chromosome, Femelle, Génotype, Humains, Oedème (), Oedème (génétique), Oedème (physiopathologie), Phénotype, Protéines à homéodomaine (génétique), Répétitions microsatellites (génétique), Sites étiquetés par des séquences, Syndrome de Turner (), Syndrome de Turner (génétique), Syndrome de Turner (physiopathologie), Technique FISH, Translocation génétique (génétique).
- MESH :
- génétique : Cassure de chromosome, Chromosome X, Oedème, Protéines à homéodomaine, Répétitions microsatellites, Syndrome de Turner, Translocation génétique.
- physiopathologie : Oedème, Syndrome de Turner.
- Bases de données d'acides nucléiques, Cartographie chromosomique, Caryotypage, Compensation de dosage génétique, Délétion de segment de chromosome, Femelle, Génotype, Humains, Oedème, Phénotype, Sites étiquetés par des séquences, Syndrome de Turner, Technique FISH.
English descriptors
- KwdEn :
- Chromosome Breakage (genetics), Chromosome Deletion, Chromosome Mapping, Databases, Nucleic Acid, Dosage Compensation, Genetic, Edema (complications), Edema (genetics), Edema (physiopathology), Female, Genotype, Homeodomain Proteins (genetics), Humans, In Situ Hybridization, Fluorescence, Karyotyping, Microsatellite Repeats (genetics), Phenotype, Sequence Tagged Sites, Translocation, Genetic (genetics), Turner Syndrome (complications), Turner Syndrome (genetics), Turner Syndrome (physiopathology), X Chromosome (genetics).
- MESH :
- chemical , genetics : Homeodomain Proteins.
- complications : Edema, Turner Syndrome.
- genetics : Chromosome Breakage, Edema, Microsatellite Repeats, Translocation, Genetic, Turner Syndrome, X Chromosome.
- physiopathology : Edema, Turner Syndrome.
- Chromosome Deletion, Chromosome Mapping, Databases, Nucleic Acid, Dosage Compensation, Genetic, Female, Genotype, Humans, In Situ Hybridization, Fluorescence, Karyotyping, Phenotype, Sequence Tagged Sites.
Abstract
Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of SHOX causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.
PubMed: 11546827
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Ogata</name></author><author><name sortKey="Affara, N A" sort="Affara, N A" uniqKey="Affara N" first="N A" last="Affara">N A Affara</name></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome Breakage (genetics)</term><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Databases, Nucleic Acid</term><term>Dosage Compensation, Genetic</term><term>Edema (complications)</term><term>Edema (genetics)</term><term>Edema (physiopathology)</term><term>Female</term><term>Genotype</term><term>Homeodomain Proteins (genetics)</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Karyotyping</term><term>Microsatellite Repeats (genetics)</term><term>Phenotype</term><term>Sequence Tagged Sites</term><term>Translocation, Genetic (genetics)</term><term>Turner Syndrome (complications)</term><term>Turner Syndrome (genetics)</term><term>Turner Syndrome (physiopathology)</term><term>X Chromosome (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Bases de données d'acides nucléiques</term><term>Cartographie chromosomique</term><term>Caryotypage</term><term>Cassure de chromosome (génétique)</term><term>Chromosome X (génétique)</term><term>Compensation de dosage génétique</term><term>Délétion de segment de chromosome</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Oedème ()</term><term>Oedème (génétique)</term><term>Oedème (physiopathologie)</term><term>Phénotype</term><term>Protéines à homéodomaine (génétique)</term><term>Répétitions microsatellites (génétique)</term><term>Sites étiquetés par des séquences</term><term>Syndrome de Turner ()</term><term>Syndrome de Turner (génétique)</term><term>Syndrome de Turner (physiopathologie)</term><term>Technique FISH</term><term>Translocation génétique (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Homeodomain Proteins</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Edema</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosome Breakage</term><term>Edema</term><term>Microsatellite Repeats</term><term>Translocation, Genetic</term><term>Turner Syndrome</term><term>X Chromosome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Cassure de chromosome</term><term>Chromosome X</term><term>Oedème</term><term>Protéines à homéodomaine</term><term>Répétitions microsatellites</term><term>Syndrome de Turner</term><term>Translocation génétique</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Oedème</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Edema</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Deletion</term><term>Chromosome Mapping</term><term>Databases, Nucleic Acid</term><term>Dosage Compensation, Genetic</term><term>Female</term><term>Genotype</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Karyotyping</term><term>Phenotype</term><term>Sequence Tagged Sites</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Bases de données d'acides nucléiques</term><term>Cartographie chromosomique</term><term>Caryotypage</term><term>Compensation de dosage génétique</term><term>Délétion de segment de chromosome</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Oedème</term><term>Phénotype</term><term>Sites étiquetés par des séquences</term><term>Syndrome de Turner</term><term>Technique FISH</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of SHOX causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">11546827</PMID><DateCreated><Year>2001</Year><Month>09</Month><Day>07</Day></DateCreated><DateCompleted><Year>2002</Year><Month>01</Month><Day>10</Day></DateCompleted><DateRevised><Year>2014</Year><Month>06</Month><Day>13</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>38</Volume><Issue>9</Issue><PubDate><Year>2001</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.</ArticleTitle><Pagination><MedlinePgn>591-8</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of SHOX causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Fluorescence in situ hybridisation (FISH) analysis with PAC clones on nine patients with partially deleted X chromosomes was performed.</AbstractText><AbstractText Label="RESULTS/DISCUSSION" NlmCategory="CONCLUSIONS">The Turner syndrome stigmata for each patient are described and correlation between the breakpoint and the phenotype discussed. A lymphoedema critical region in Xp11.4 is proposed and its gene content discussed with respect to that in the previously reported Yp11.2 lymphoedema critical region.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Boucher</LastName><ForeName>C A</ForeName><Initials>CA</Initials><AffiliationInfo><Affiliation>Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sargent</LastName><ForeName>C A</ForeName><Initials>CA</Initials></Author><Author ValidYN="Y"><LastName>Ogata</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Affara</LastName><ForeName>N A</ForeName><Initials>NA</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Med Genet</MedlineTA><NlmUniqueID>2985087R</NlmUniqueID><ISSNLinking>0022-2593</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018398">Homeodomain Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C106071">SHOX protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 1995 Jun;95(6):607-29</RefSource><PMID Version="1">7789944</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Genomics. 1994 Nov 15;24(2):266-75</RefSource><PMID Version="1">7698748</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Hum Genet. 1996 May;97(5):564-7</RefSource><PMID 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UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D002872" MajorTopicYN="Y">Chromosome Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002874" MajorTopicYN="N">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D030561" MajorTopicYN="N">Databases, Nucleic Acid</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004303" MajorTopicYN="N">Dosage Compensation, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004487" MajorTopicYN="N">Edema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018398" MajorTopicYN="N">Homeodomain Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017404" MajorTopicYN="N">In Situ Hybridization, Fluorescence</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007621" MajorTopicYN="N">Karyotyping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018895" MajorTopicYN="N">Microsatellite Repeats</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016324" MajorTopicYN="N">Sequence Tagged Sites</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014178" MajorTopicYN="N">Translocation, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014424" MajorTopicYN="N">Turner Syndrome</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014960" MajorTopicYN="N">X Chromosome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC1734929</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>9</Month><Day>8</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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