[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].
Identifieur interne : 004F77 ( PubMed/Curation ); précédent : 004F76; suivant : 004F78[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].
Auteurs : J L Ruibal Francisco [Espagne] ; P. Sánchez Bur N ; E. Pi Ero Martínez ; G. Bueno Lozano ; F. Reverte BlancSource :
- Anales espanoles de pediatria [ 0302-4342 ] ; 1997.
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Abstract
In this study we have assessed the frequency of karyotypes, phenotypes and some associated diseases 23 girls affected with turner's syndrome. Moreover, we have analyzed their relationships.
PubMed: 9382349
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].</title><author><name sortKey="Ruibal Francisco, J L" sort="Ruibal Francisco, J L" uniqKey="Ruibal Francisco J" first="J L" last="Ruibal Francisco">J L Ruibal Francisco</name><affiliation wicri:level="3"><nlm:affiliation>Dpto. de Pediatría, Hospital Universitario San Carlos, Madrid.</nlm:affiliation><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName><wicri:orgArea>Dpto. de Pediatría, Hospital Universitario San Carlos</wicri:orgArea></affiliation></author><author><name sortKey="Sanchez Bur N, P" sort="Sanchez Bur N, P" uniqKey="Sanchez Bur N P" first="P" last="Sánchez Bur N">P. Sánchez Bur N</name></author><author><name sortKey="Pi Ero Martinez, E" sort="Pi Ero Martinez, E" uniqKey="Pi Ero Martinez E" first="E" last="Pi Ero Martínez">E. Pi Ero Martínez</name></author><author><name sortKey="Bueno Lozano, G" sort="Bueno Lozano, G" uniqKey="Bueno Lozano G" first="G" last="Bueno Lozano">G. Bueno Lozano</name></author><author><name sortKey="Reverte Blanc, F" sort="Reverte Blanc, F" uniqKey="Reverte Blanc F" first="F" last="Reverte Blanc">F. Reverte Blanc</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1997">1997</date><idno type="RBID">pubmed:9382349</idno><idno type="pmid">9382349</idno><idno type="wicri:Area/PubMed/Corpus">004F77</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004F77</idno><idno type="wicri:Area/PubMed/Curation">004F77</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004F77</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].</title><author><name sortKey="Ruibal Francisco, J L" sort="Ruibal Francisco, J L" uniqKey="Ruibal Francisco J" first="J L" last="Ruibal Francisco">J L Ruibal Francisco</name><affiliation wicri:level="3"><nlm:affiliation>Dpto. de Pediatría, Hospital Universitario San Carlos, Madrid.</nlm:affiliation><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName><wicri:orgArea>Dpto. de Pediatría, Hospital Universitario San Carlos</wicri:orgArea></affiliation></author><author><name sortKey="Sanchez Bur N, P" sort="Sanchez Bur N, P" uniqKey="Sanchez Bur N P" first="P" last="Sánchez Bur N">P. Sánchez Bur N</name></author><author><name sortKey="Pi Ero Martinez, E" sort="Pi Ero Martinez, E" uniqKey="Pi Ero Martinez E" first="E" last="Pi Ero Martínez">E. Pi Ero Martínez</name></author><author><name sortKey="Bueno Lozano, G" sort="Bueno Lozano, G" uniqKey="Bueno Lozano G" first="G" last="Bueno Lozano">G. Bueno Lozano</name></author><author><name sortKey="Reverte Blanc, F" sort="Reverte Blanc, F" uniqKey="Reverte Blanc F" first="F" last="Reverte Blanc">F. Reverte Blanc</name></author></analytic><series><title level="j">Anales espanoles de pediatria</title><idno type="ISSN">0302-4342</idno><imprint><date when="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Congenital Abnormalities (genetics)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Karyotyping</term><term>Retrospective Studies</term><term>Turner Syndrome (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Caryotypage</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Malformations (génétique)</term><term>Nourrisson</term><term>Nouveau-né</term><term>Syndrome de Turner (génétique)</term><term>Études rétrospectives</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Congenital Abnormalities</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Malformations</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Karyotyping</term><term>Retrospective Studies</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Caryotypage</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Nourrisson</term><term>Nouveau-né</term><term>Études rétrospectives</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In this study we have assessed the frequency of karyotypes, phenotypes and some associated diseases 23 girls affected with turner's syndrome. Moreover, we have analyzed their relationships.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">9382349</PMID><DateCreated><Year>1997</Year><Month>11</Month><Day>24</Day></DateCreated><DateCompleted><Year>1997</Year><Month>11</Month><Day>24</Day></DateCompleted><DateRevised><Year>2013</Year><Month>05</Month><Day>20</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0302-4342</ISSN><JournalIssue CitedMedium="Print"><Volume>47</Volume><Issue>2</Issue><PubDate><Year>1997</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Anales espanoles de pediatria</Title><ISOAbbreviation>An. Esp. Pediatr.</ISOAbbreviation></Journal><ArticleTitle>[Turner's syndrome. Relationship between the karyotypes and malformations and associated diseases in 23 patients].</ArticleTitle><Pagination><MedlinePgn>167-71</MedlinePgn></Pagination><Abstract><AbstractText Label="UNLABELLED">In this study we have assessed the frequency of karyotypes, phenotypes and some associated diseases 23 girls affected with turner's syndrome. Moreover, we have analyzed their relationships.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The most important findings the following: 1) The mean age at diagnosis was 7.37 +/- 5.65 (0, 16) years. 2) The most frequent karyotype was monosomy 45XO, which was found in fourteen patients (60.9%), followed by isochromosome of the long arm of chromosome 46 XiXq in five cases (21.7%), two mosaics, one 45 XO/46 XiXq and one 45XO/46XX, and two deletions of the short arm of chromosome X (46 XX Xp-). 3) The classical phenotype was found in 87% of the cases. 4) Bone malformations were found in nine patients (39.1%). The most frequent were, short metacarpals in five cases, knee anomalies (Kosowicz's sign) in four, one Madelung deformity and one alata scapula. 5) Renal malformations were detected in five patients (21.8%), two rotational abnormalities, two horseshoe kidneys and one double collecting system. 6) Cardiovascular malformations were found in four cases (17.3%). Three bicuspid aortic valves and one aortic coarctation were diagnosed. 7) Otitis media was discovered in seven girls (30.5%). 8) Other processes found were, congenital lymphedema in four cases, one Klipell-Trenaunay syndrome, one Dandy-Walker anomaly, one congenital glaucoma, one colesteatoma, one congenital torticolis, one hit luxation and one essential arterial hypertension. A significant correlation was found between karyotype and phenotype, such that all of the patients with monosomies and with mosaics, 66% of those with X isochromosomes and one of the patients with a deletion had a classical phenotype. We found no correlation between the karyotype and the different malformations and associated diseases.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ruibal Francisco</LastName><ForeName>J L</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Dpto. de Pediatría, Hospital Universitario San Carlos, Madrid.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sánchez Burón</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Piñero Martínez</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Bueno Lozano</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Reverte Blanc</LastName><ForeName>F</ForeName><Initials>F</Initials></Author></AuthorList><Language>spa</Language><PublicationTypeList><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><VernacularTitle>Síndrome de Turner. Relación entre sus cariotipos y las malformaciones y algunos procesos asociados en 23 pacientes.</VernacularTitle></Article><MedlineJournalInfo><Country>Spain</Country><MedlineTA>An Esp Pediatr</MedlineTA><NlmUniqueID>0420463</NlmUniqueID><ISSNLinking>0302-4342</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000013" MajorTopicYN="N">Congenital Abnormalities</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007621" MajorTopicYN="N">Karyotyping</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012189" MajorTopicYN="N">Retrospective Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014424" MajorTopicYN="N">Turner Syndrome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1997</Year><Month>8</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1998</Year><Month>2</Month><Day>12</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1997</Year><Month>8</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">9382349</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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