3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
Identifieur interne : 007A81 ( PubMed/Checkpoint ); précédent : 007A80; suivant : 007A823.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.
Auteurs : Konrad Oexle [Allemagne] ; Maja Hempel ; Anna Jauch ; Thomas Meitinger ; Núria Rivera-Brugués ; Sabine Stengel-Rutkowski ; Tim StromSource :
- European journal of medical genetics [ 1878-0849 ]
Descripteurs français
- KwdFr :
- Aberrations des chromosomes, Adolescent, Chromosomes humains de la paire 5 (génétique), Duplication de gène, Enfant, Enfant d'âge préscolaire, Humains, Incapacités de développement (anatomopathologie), Jeune adulte, Lymphoedème (anatomopathologie), Maladies chromosomiques (anatomopathologie), Maladies chromosomiques (génétique), Malformations multiples (anatomopathologie), Malformations multiples (génétique), Mâle, Mégalencéphalie (anatomopathologie), Nourrisson, Obésité (anatomopathologie), Syndrome, Technique FISH, Études de suivi.
- MESH :
- anatomopathologie : Incapacités de développement, Lymphoedème, Maladies chromosomiques, Malformations multiples, Mégalencéphalie, Obésité.
- génétique : Chromosomes humains de la paire 5, Maladies chromosomiques, Malformations multiples.
- Aberrations des chromosomes, Adolescent, Duplication de gène, Enfant, Enfant d'âge préscolaire, Humains, Jeune adulte, Mâle, Nourrisson, Syndrome, Technique FISH, Études de suivi.
English descriptors
- KwdEn :
- Abnormalities, Multiple (genetics), Abnormalities, Multiple (pathology), Adolescent, Child, Child, Preschool, Chromosome Aberrations, Chromosome Disorders (genetics), Chromosome Disorders (pathology), Chromosomes, Human, Pair 5 (genetics), Developmental Disabilities (pathology), Follow-Up Studies, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Infant, Lymphedema (pathology), Male, Megalencephaly (pathology), Obesity (pathology), Syndrome, Young Adult.
- MESH :
- genetics : Abnormalities, Multiple, Chromosome Disorders, Chromosomes, Human, Pair 5.
- pathology : Abnormalities, Multiple, Chromosome Disorders, Developmental Disabilities, Lymphedema, Megalencephaly, Obesity.
- Adolescent, Child, Child, Preschool, Chromosome Aberrations, Follow-Up Studies, Gene Duplication, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Syndrome, Young Adult.
Abstract
In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.
DOI: 10.1016/j.ejmg.2010.12.012
PubMed: 21211577
Affiliations:
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pubmed:21211577Le document en format XML
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uniqKey="Jauch A" first="Anna" last="Jauch">Anna Jauch</name></author><author><name sortKey="Meitinger, Thomas" sort="Meitinger, Thomas" uniqKey="Meitinger T" first="Thomas" last="Meitinger">Thomas Meitinger</name></author><author><name sortKey="Rivera Brugues, Nuria" sort="Rivera Brugues, Nuria" uniqKey="Rivera Brugues N" first="Núria" last="Rivera-Brugués">Núria Rivera-Brugués</name></author><author><name sortKey="Stengel Rutkowski, Sabine" sort="Stengel Rutkowski, Sabine" uniqKey="Stengel Rutkowski S" first="Sabine" last="Stengel-Rutkowski">Sabine Stengel-Rutkowski</name></author><author><name sortKey="Strom, Tim" sort="Strom, Tim" uniqKey="Strom T" first="Tim" last="Strom">Tim Strom</name></author></analytic><series><title level="j">European journal of medical genetics</title><idno type="eISSN">1878-0849</idno></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormalities, Multiple (genetics)</term><term>Abnormalities, Multiple (pathology)</term><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Chromosome Disorders (genetics)</term><term>Chromosome Disorders (pathology)</term><term>Chromosomes, Human, Pair 5 (genetics)</term><term>Developmental Disabilities (pathology)</term><term>Follow-Up Studies</term><term>Gene Duplication</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Infant</term><term>Lymphedema (pathology)</term><term>Male</term><term>Megalencephaly (pathology)</term><term>Obesity (pathology)</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Adolescent</term><term>Chromosomes humains de la paire 5 (génétique)</term><term>Duplication de gène</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Incapacités de développement (anatomopathologie)</term><term>Jeune adulte</term><term>Lymphoedème (anatomopathologie)</term><term>Maladies chromosomiques (anatomopathologie)</term><term>Maladies chromosomiques (génétique)</term><term>Malformations multiples (anatomopathologie)</term><term>Malformations multiples (génétique)</term><term>Mâle</term><term>Mégalencéphalie (anatomopathologie)</term><term>Nourrisson</term><term>Obésité (anatomopathologie)</term><term>Syndrome</term><term>Technique FISH</term><term>Études de suivi</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Incapacités de développement</term><term>Lymphoedème</term><term>Maladies chromosomiques</term><term>Malformations multiples</term><term>Mégalencéphalie</term><term>Obésité</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Abnormalities, Multiple</term><term>Chromosome Disorders</term><term>Chromosomes, Human, Pair 5</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 5</term><term>Maladies chromosomiques</term><term>Malformations multiples</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Abnormalities, Multiple</term><term>Chromosome Disorders</term><term>Developmental Disabilities</term><term>Lymphedema</term><term>Megalencephaly</term><term>Obesity</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Chromosome Aberrations</term><term>Follow-Up Studies</term><term>Gene Duplication</term><term>Humans</term><term>In Situ Hybridization, Fluorescence</term><term>Infant</term><term>Male</term><term>Syndrome</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Adolescent</term><term>Duplication de gène</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Humains</term><term>Jeune adulte</term><term>Mâle</term><term>Nourrisson</term><term>Syndrome</term><term>Technique FISH</term><term>Études de suivi</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">21211577</PMID><DateCreated><Year>2011</Year><Month>05</Month><Day>03</Day></DateCreated><DateCompleted><Year>2011</Year><Month>09</Month><Day>28</Day></DateCompleted><DateRevised><Year>2014</Year><Month>11</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1878-0849</ISSN><JournalIssue CitedMedium="Internet"><Volume>54</Volume><Issue>3</Issue><PubDate><MedlineDate>2011 May-Jun</MedlineDate></PubDate></JournalIssue><Title>European journal of medical genetics</Title><ISOAbbreviation>Eur J Med Genet</ISOAbbreviation></Journal><ArticleTitle>3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.</ArticleTitle><Pagination><MedlinePgn>225-30</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ejmg.2010.12.012</ELocationID><Abstract><AbstractText>In a male patient with developmental delay, autistic behaviour, obesity, lymphedema, hypertension, macrocephaly, and facial features of chromosome 5p duplication (trisomy 5p) a 3.7 Mb de novo tandem microduplication of 5p13.1-13.2 (rs4703415-rs261752, i.e., chr5:35.62-39.36 Mb) was identified. This observation contributes to the characterization and dissection of the 5p13 duplication syndrome. The possible role of increased NIPBL gene dosage is discussed.</AbstractText><CopyrightInformation>Copyright © 2010 Elsevier Masson SAS. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Oexle</LastName><ForeName>Konrad</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Technische Universität München, Munich, Germany. oexle@humangenetik.med.tum.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hempel</LastName><ForeName>Maja</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Jauch</LastName><ForeName>Anna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Meitinger</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Rivera-Brugués</LastName><ForeName>Núria</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Stengel-Rutkowski</LastName><ForeName>Sabine</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Strom</LastName><ForeName>Tim</ForeName><Initials>T</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2011</Year><Month>01</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Eur J Med Genet</MedlineTA><NlmUniqueID>101247089</NlmUniqueID><ISSNLinking>1769-7212</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000015" MajorTopicYN="N">Abnormalities, Multiple</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName 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MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005500" MajorTopicYN="N">Follow-Up Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020440" MajorTopicYN="N">Gene Duplication</DescriptorName></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="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D058627" MajorTopicYN="N">Megalencephaly</DescriptorName><QualifierName UI="Q000473" 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sortKey="Rivera Brugues, Nuria" sort="Rivera Brugues, Nuria" uniqKey="Rivera Brugues N" first="Núria" last="Rivera-Brugués">Núria Rivera-Brugués</name><name sortKey="Stengel Rutkowski, Sabine" sort="Stengel Rutkowski, Sabine" uniqKey="Stengel Rutkowski S" first="Sabine" last="Stengel-Rutkowski">Sabine Stengel-Rutkowski</name><name sortKey="Strom, Tim" sort="Strom, Tim" uniqKey="Strom T" first="Tim" last="Strom">Tim Strom</name></noCountry><country name="Allemagne"><region name="Bavière"><name sortKey="Oexle, Konrad" sort="Oexle, Konrad" uniqKey="Oexle K" first="Konrad" last="Oexle">Konrad Oexle</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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