Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
Identifieur interne : 000355 ( PubMed/Corpus ); précédent : 000354; suivant : 000356Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.
Auteurs : Ewa Kaczorowska ; Janusz Zimowski ; Monika Cicho Kotek ; Agnieszka Mrozi Ska ; Joanna Purzycka ; Jolanta Wierzba ; Janusz Limon ; Beata S. Lipska-Zi TkiewiczSource :
- Developmental period medicine [ 1428-345X ]
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Dystrophin.
- complications : Muscular Dystrophy, Duchenne, Turner Syndrome.
- diagnosis : Muscular Dystrophy, Duchenne.
- metabolism : Muscular Dystrophy, Duchenne.
- Child, Preschool, Female, Frameshift Mutation, Humans, Infant, Sequence Deletion.
Abstract
Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.
PubMed: 28216480
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.</title><author><name sortKey="Kaczorowska, Ewa" sort="Kaczorowska, Ewa" uniqKey="Kaczorowska E" first="Ewa" last="Kaczorowska">Ewa Kaczorowska</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Zimowski, Janusz" sort="Zimowski, Janusz" uniqKey="Zimowski J" first="Janusz" last="Zimowski">Janusz Zimowski</name><affiliation><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology.</nlm:affiliation></affiliation></author><author><name sortKey="Cicho Kotek, Monika" sort="Cicho Kotek, Monika" uniqKey="Cicho Kotek M" first="Monika" last="Cicho Kotek">Monika Cicho Kotek</name><affiliation><nlm:affiliation>Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Mrozi Ska, Agnieszka" sort="Mrozi Ska, Agnieszka" uniqKey="Mrozi Ska A" first="Agnieszka" last="Mrozi Ska">Agnieszka Mrozi Ska</name><affiliation><nlm:affiliation>Faculty of Medicine, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Purzycka, Joanna" sort="Purzycka, Joanna" uniqKey="Purzycka J" first="Joanna" last="Purzycka">Joanna Purzycka</name><affiliation><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology.</nlm:affiliation></affiliation></author><author><name sortKey="Wierzba, Jolanta" sort="Wierzba, Jolanta" uniqKey="Wierzba J" first="Jolanta" last="Wierzba">Jolanta Wierzba</name><affiliation><nlm:affiliation>Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk, Department of General Nursing, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Limon, Janusz" sort="Limon, Janusz" uniqKey="Limon J" first="Janusz" last="Limon">Janusz Limon</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Lipska Zi Tkiewicz, Beata S" sort="Lipska Zi Tkiewicz, Beata S" uniqKey="Lipska Zi Tkiewicz B" first="Beata S" last="Lipska-Zi Tkiewicz">Beata S. Lipska-Zi Tkiewicz</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="????"><PubDate><MedlineDate>2016</MedlineDate></PubDate></date><idno type="RBID">pubmed:28216480</idno><idno type="pmid">28216480</idno><idno type="wicri:Area/PubMed/Corpus">000355</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000355</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.</title><author><name sortKey="Kaczorowska, Ewa" sort="Kaczorowska, Ewa" uniqKey="Kaczorowska E" first="Ewa" last="Kaczorowska">Ewa Kaczorowska</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Zimowski, Janusz" sort="Zimowski, Janusz" uniqKey="Zimowski J" first="Janusz" last="Zimowski">Janusz Zimowski</name><affiliation><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology.</nlm:affiliation></affiliation></author><author><name sortKey="Cicho Kotek, Monika" sort="Cicho Kotek, Monika" uniqKey="Cicho Kotek M" first="Monika" last="Cicho Kotek">Monika Cicho Kotek</name><affiliation><nlm:affiliation>Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Mrozi Ska, Agnieszka" sort="Mrozi Ska, Agnieszka" uniqKey="Mrozi Ska A" first="Agnieszka" last="Mrozi Ska">Agnieszka Mrozi Ska</name><affiliation><nlm:affiliation>Faculty of Medicine, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Purzycka, Joanna" sort="Purzycka, Joanna" uniqKey="Purzycka J" first="Joanna" last="Purzycka">Joanna Purzycka</name><affiliation><nlm:affiliation>Department of Genetics, Institute of Psychiatry and Neurology.</nlm:affiliation></affiliation></author><author><name sortKey="Wierzba, Jolanta" sort="Wierzba, Jolanta" uniqKey="Wierzba J" first="Jolanta" last="Wierzba">Jolanta Wierzba</name><affiliation><nlm:affiliation>Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk, Department of General Nursing, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Limon, Janusz" sort="Limon, Janusz" uniqKey="Limon J" first="Janusz" last="Limon">Janusz Limon</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation></affiliation></author><author><name sortKey="Lipska Zi Tkiewicz, Beata S" sort="Lipska Zi Tkiewicz, Beata S" uniqKey="Lipska Zi Tkiewicz B" first="Beata S" last="Lipska-Zi Tkiewicz">Beata S. Lipska-Zi Tkiewicz</name><affiliation><nlm:affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Developmental period medicine</title><idno type="ISSN">1428-345X</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child, Preschool</term><term>Dystrophin (genetics)</term><term>Female</term><term>Frameshift Mutation</term><term>Humans</term><term>Infant</term><term>Muscular Dystrophy, Duchenne (complications)</term><term>Muscular Dystrophy, Duchenne (diagnosis)</term><term>Muscular Dystrophy, Duchenne (metabolism)</term><term>Sequence Deletion</term><term>Turner Syndrome (complications)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Dystrophin</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Muscular Dystrophy, Duchenne</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term><term>Female</term><term>Frameshift Mutation</term><term>Humans</term><term>Infant</term><term>Sequence Deletion</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">28216480</PMID><DateCreated><Year>2017</Year><Month>02</Month><Day>20</Day></DateCreated><DateCompleted><Year>2017</Year><Month>09</Month><Day>01</Day></DateCompleted><DateRevised><Year>2017</Year><Month>09</Month><Day>01</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1428-345X</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>4</Issue><PubDate><MedlineDate>2016</MedlineDate></PubDate></JournalIssue><Title>Developmental period medicine</Title><ISOAbbreviation>Dev Period Med</ISOAbbreviation></Journal><ArticleTitle>Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.</ArticleTitle><Pagination><MedlinePgn>273-278</MedlinePgn></Pagination><Abstract><AbstractText Label="INTRODUCTION" NlmCategory="BACKGROUND">Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally.</AbstractText><AbstractText Label="CASE PRESENTATION" NlmCategory="METHODS">Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kaczorowska</LastName><ForeName>Ewa</ForeName><Initials>E</Initials><AffiliationInfo><Affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zimowski</LastName><ForeName>Janusz</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Genetics, Institute of Psychiatry and Neurology.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Cichoń-Kotek</LastName><ForeName>Monika</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mrozińska</LastName><ForeName>Agnieszka</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Faculty of Medicine, Medical University of Gdańsk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Purzycka</LastName><ForeName>Joanna</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Genetics, Institute of Psychiatry and Neurology.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wierzba</LastName><ForeName>Jolanta</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Hematology, Oncology, Medical University of Gdańsk, Department of General Nursing, Medical University of Gdańsk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Limon</LastName><ForeName>Janusz</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lipska-Ziętkiewicz</LastName><ForeName>Beata S</ForeName><Initials>BS</Initials><AffiliationInfo><Affiliation>Department of Biology and Genetics, Medical University of Gdańsk.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Poland</Country><MedlineTA>Dev Period Med</MedlineTA><NlmUniqueID>101636421</NlmUniqueID></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016189">Dystrophin</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016189" MajorTopicYN="N">Dystrophin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016368" MajorTopicYN="N">Frameshift Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020388" MajorTopicYN="N">Muscular Dystrophy, Duchenne</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017384" MajorTopicYN="N">Sequence Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014424" MajorTopicYN="N">Turner Syndrome</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">DMD</Keyword><Keyword MajorTopicYN="N">Duchenne muscular dystrophy</Keyword><Keyword MajorTopicYN="N">monosomy X chromosome</Keyword><Keyword MajorTopicYN="N">Turner syndrome</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2017</Year><Month>2</Month><Day>21</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2017</Year><Month>2</Month><Day>22</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2017</Year><Month>9</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">28216480</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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