Pericentric inversions of chromosome 4: report of a new family and review of the literature.
Identifieur interne : 004C73 ( PubMed/Checkpoint ); précédent : 004C72; suivant : 004C74Pericentric inversions of chromosome 4: report of a new family and review of the literature.
Auteurs : A. Villa [Espagne] ; M. Urioste ; M C Carrascosa ; S. Vázquez ; A. Martínez ; M L Martínez-FríasSource :
- Clinical genetics [ 0009-9163 ] ; 1995.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Chromosomes humains de la paire 4, Lymphoedème.
- physiopathologie : Lymphoedème.
- Adulte, Cytogénétique, Délétion de gène, Famille multigénique, Femelle, Humains, Inversion chromosomique, Mâle, Nouveau-né.
English descriptors
- KwdEn :
- MESH :
- genetics : Chromosomes, Human, Pair 4, Lymphedema.
- physiopathology : Lymphedema.
- Adult, Chromosome Inversion, Cytogenetics, Female, Gene Deletion, Humans, Infant, Newborn, Male, Multigene Family.
Abstract
A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.
PubMed: 8825604
Affiliations:
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Urioste</name></author><author><name sortKey="Carrascosa, M C" sort="Carrascosa, M C" uniqKey="Carrascosa M" first="M C" last="Carrascosa">M C Carrascosa</name></author><author><name sortKey="Vazquez, S" sort="Vazquez, S" uniqKey="Vazquez S" first="S" last="Vázquez">S. Vázquez</name></author><author><name sortKey="Martinez, A" sort="Martinez, A" uniqKey="Martinez A" first="A" last="Martínez">A. Martínez</name></author><author><name sortKey="Martinez Frias, M L" sort="Martinez Frias, M L" uniqKey="Martinez Frias M" first="M L" last="Martínez-Frías">M L Martínez-Frías</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1995">1995</date><idno type="RBID">pubmed:8825604</idno><idno type="pmid">8825604</idno><idno type="wicri:Area/PubMed/Corpus">005297</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">005297</idno><idno type="wicri:Area/PubMed/Curation">005297</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">005297</idno><idno type="wicri:Area/PubMed/Checkpoint">005297</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">005297</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Pericentric inversions of chromosome 4: report of a new family and review of the literature.</title><author><name sortKey="Villa, A" sort="Villa, A" uniqKey="Villa A" first="A" last="Villa">A. Villa</name><affiliation wicri:level="3"><nlm:affiliation>ECEMC, Universidad Complutense, Madrid, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>ECEMC, Universidad Complutense, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Urioste, M" sort="Urioste, M" uniqKey="Urioste M" first="M" last="Urioste">M. Urioste</name></author><author><name sortKey="Carrascosa, M C" sort="Carrascosa, M C" uniqKey="Carrascosa M" first="M C" last="Carrascosa">M C Carrascosa</name></author><author><name sortKey="Vazquez, S" sort="Vazquez, S" uniqKey="Vazquez S" first="S" last="Vázquez">S. Vázquez</name></author><author><name sortKey="Martinez, A" sort="Martinez, A" uniqKey="Martinez A" first="A" last="Martínez">A. Martínez</name></author><author><name sortKey="Martinez Frias, M L" sort="Martinez Frias, M L" uniqKey="Martinez Frias M" first="M L" last="Martínez-Frías">M L Martínez-Frías</name></author></analytic><series><title level="j">Clinical genetics</title><idno type="ISSN">0009-9163</idno><imprint><date when="1995" type="published">1995</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Chromosome Inversion</term><term>Chromosomes, Human, Pair 4 (genetics)</term><term>Cytogenetics</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphedema (genetics)</term><term>Lymphedema (physiopathology)</term><term>Male</term><term>Multigene Family</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Chromosomes humains de la paire 4 (génétique)</term><term>Cytogénétique</term><term>Délétion de gène</term><term>Famille multigénique</term><term>Femelle</term><term>Humains</term><term>Inversion chromosomique</term><term>Lymphoedème (génétique)</term><term>Lymphoedème (physiopathologie)</term><term>Mâle</term><term>Nouveau-né</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 4</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 4</term><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Inversion</term><term>Cytogenetics</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Multigene Family</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Cytogénétique</term><term>Délétion de gène</term><term>Famille multigénique</term><term>Femelle</term><term>Humains</term><term>Inversion chromosomique</term><term>Mâle</term><term>Nouveau-né</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">8825604</PMID><DateCreated><Year>1996</Year><Month>12</Month><Day>05</Day></DateCreated><DateCompleted><Year>1996</Year><Month>12</Month><Day>05</Day></DateCompleted><DateRevised><Year>2009</Year><Month>11</Month><Day>19</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0009-9163</ISSN><JournalIssue CitedMedium="Print"><Volume>48</Volume><Issue>5</Issue><PubDate><Year>1995</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Clinical genetics</Title><ISOAbbreviation>Clin. Genet.</ISOAbbreviation></Journal><ArticleTitle>Pericentric inversions of chromosome 4: report of a new family and review of the literature.</ArticleTitle><Pagination><MedlinePgn>255-60</MedlinePgn></Pagination><Abstract><AbstractText>A family was cytogenetically studied because of the birth of a male child with a multiple congenital anomaly pattern, in whom a dup (4q) recombinant was found. His phenotypically normal mother's karyotype showed an apparently balanced pericentric inversion in a chromosome 4. So as to analyze the occurrence of recombinants, the cytogenetic data from this family are compared with those of the 18 previously reported familial cases of pericentric inversions (PIs) of chromosome 4. The congenital anomalies observed in the child strongly suggest Wolf-Hirschhorn syndrome but some of his clinical features seem to be pathogenetically related to the presence of lymphedema during the intrauterine period. In the multiple congenital anomaly pattern observed in this patient, the lymphedema could be the consequence of the large 4q duplication. The review of chromosome 4 PIs with 4q duplication suggests that the q3 region should be examined when edema is detected prenatally.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Villa</LastName><ForeName>A</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>ECEMC, Universidad Complutense, Madrid, Spain.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Urioste</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Carrascosa</LastName><ForeName>M C</ForeName><Initials>MC</Initials></Author><Author ValidYN="Y"><LastName>Vázquez</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Martínez</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Martínez-Frías</LastName><ForeName>M L</ForeName><Initials>ML</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><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Denmark</Country><MedlineTA>Clin Genet</MedlineTA><NlmUniqueID>0253664</NlmUniqueID><ISSNLinking>0009-9163</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007446" MajorTopicYN="Y">Chromosome Inversion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002894" MajorTopicYN="N">Chromosomes, Human, Pair 4</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003582" MajorTopicYN="N">Cytogenetics</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017353" MajorTopicYN="N">Gene Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007231" MajorTopicYN="N">Infant, Newborn</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005810" MajorTopicYN="N">Multigene Family</DescriptorName></MeshHeading></MeshHeadingList><NumberOfReferences>31</NumberOfReferences></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1995</Year><Month>11</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1995</Year><Month>11</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1995</Year><Month>11</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">8825604</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Espagne</li></country><region><li>Communauté de Madrid</li></region><settlement><li>Madrid</li></settlement></list><tree><noCountry><name sortKey="Carrascosa, M C" sort="Carrascosa, M C" uniqKey="Carrascosa M" first="M C" last="Carrascosa">M C Carrascosa</name><name sortKey="Martinez Frias, M L" sort="Martinez Frias, M L" uniqKey="Martinez Frias M" first="M L" last="Martínez-Frías">M L Martínez-Frías</name><name sortKey="Martinez, A" sort="Martinez, A" uniqKey="Martinez A" first="A" last="Martínez">A. Martínez</name><name sortKey="Urioste, M" sort="Urioste, M" uniqKey="Urioste M" first="M" last="Urioste">M. Urioste</name><name sortKey="Vazquez, S" sort="Vazquez, S" uniqKey="Vazquez S" first="S" last="Vázquez">S. Vázquez</name></noCountry><country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Villa, A" sort="Villa, A" uniqKey="Villa A" first="A" last="Villa">A. Villa</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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