Brief clinical report: A genetic association between microcephaly and lymphedema
Identifieur interne : 00EC09 ( Main/Exploration ); précédent : 00EC08; suivant : 00EC10Brief clinical report: A genetic association between microcephaly and lymphedema
Auteurs : Carol A. Crowe [États-Unis] ; Lois H. Dickerman [États-Unis] ; John M. Opitz [États-Unis] ; James F. Reynolds [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1986-05.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Lymphoedème, Maladies du pied, Microcéphalie.
- Gènes dominants, Humains, Lymphoedème, Maladies du pied, Mâle, Nouveau-né, Pedigree.
- Pascal (Inist)
- Wicri :
- topic : Pédiatrie.
English descriptors
- KwdEn :
- Brain (Vertebrata), Cardiovascular disease, Complex syndrome, Concomitant disease, Foot Diseases (congenital), Foot Diseases (genetics), Genes, Dominant, Humans, Infant, Newborn, Lymphatic vessel disease, Lymphedema, Lymphedema (congenital), Lymphedema (genetics), Male, Malformation, Microcephaly, Microcephaly (genetics), Pediatrics, Pedigree.
- MESH :
- congenital : Foot Diseases, Lymphedema.
- genetics : Foot Diseases, Lymphedema, Microcephaly.
- Genes, Dominant, Humans, Infant, Newborn, Male, Pedigree.
Abstract
We discuss a family in which microcephaly and lymphedema are co‐segregating as an apparently autosomal or X‐linked dominant trait. A review of each malformation is presented with reference to the known genetic patterns of each. This combination of microcephaly and lymphedema may be a unique syndrome, previously undescribed because of subtleties of expression in affected individuals.
Url:
DOI: 10.1002/ajmg.1320240116
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003F83
- to stream Istex, to step Curation: 003F83
- to stream Istex, to step Checkpoint: 005E09
- to stream PubMed, to step Corpus: 006601
- to stream PubMed, to step Curation: 006601
- to stream PubMed, to step Checkpoint: 006601
- to stream Ncbi, to step Merge: 009996
- to stream Ncbi, to step Curation: 009996
- to stream Ncbi, to step Checkpoint: 009996
- to stream Main, to step Merge: 00F982
- to stream PascalFrancis, to step Corpus: 001027
- to stream PascalFrancis, to step Curation: 000A81
- to stream PascalFrancis, to step Checkpoint: 001030
- to stream Main, to step Merge: 00FA41
- to stream Main, to step Curation: 00EC09
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Brief clinical report: A genetic association between microcephaly and lymphedema</title><author><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name></author><author><name sortKey="Dickerman, Lois H" sort="Dickerman, Lois H" uniqKey="Dickerman L" first="Lois H." last="Dickerman">Lois H. Dickerman</name></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:874075F0872FFAA371F72BA16ECF375DAADD71CB</idno><date when="1986" year="1986">1986</date><idno type="doi">10.1002/ajmg.1320240116</idno><idno type="url">https://api.istex.fr/document/874075F0872FFAA371F72BA16ECF375DAADD71CB/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003F83</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003F83</idno><idno type="wicri:Area/Istex/Curation">003F83</idno><idno type="wicri:Area/Istex/Checkpoint">005E09</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">005E09</idno><idno type="wicri:doubleKey">0148-7299:1986:Crowe C:brief:clinical:report</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:3706402</idno><idno type="wicri:Area/PubMed/Corpus">006601</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">006601</idno><idno type="wicri:Area/PubMed/Curation">006601</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">006601</idno><idno type="wicri:Area/PubMed/Checkpoint">006601</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">006601</idno><idno type="wicri:Area/Ncbi/Merge">009996</idno><idno type="wicri:Area/Ncbi/Curation">009996</idno><idno type="wicri:Area/Ncbi/Checkpoint">009996</idno><idno type="wicri:doubleKey">0148-7299:1986:Crowe C:a:genetic:association</idno><idno type="wicri:Area/Main/Merge">00F982</idno><idno type="wicri:source">INIST</idno><idno type="RBID">Pascal:87-0023088</idno><idno type="wicri:Area/PascalFrancis/Corpus">001027</idno><idno type="wicri:Area/PascalFrancis/Curation">000A81</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001030</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">001030</idno><idno type="wicri:doubleKey">0148-7299:1986:Crowe C:brief:clinical:report</idno><idno type="wicri:Area/Main/Merge">00FA41</idno><idno type="wicri:Area/Main/Curation">00EC09</idno><idno type="wicri:Area/Main/Exploration">00EC09</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Brief clinical report: A genetic association between microcephaly and lymphedema</title><author><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Pediatrics, Rainbow Babies and Childrens Hospital, Case Western Reserve University, Cleveland</wicri:cityArea></affiliation><affiliation></affiliation></author><author><name sortKey="Dickerman, Lois H" sort="Dickerman, Lois H" uniqKey="Dickerman L" first="Lois H." last="Dickerman">Lois H. Dickerman</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Pediatrics, Rainbow Babies and Childrens Hospital, Case Western Reserve University, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Pediatrics, Rainbow Babies and Childrens Hospital, Case Western Reserve University, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Pediatrics, Rainbow Babies and Childrens Hospital, Case Western Reserve University, Cleveland</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">24</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="131">131</biblScope><biblScope unit="page" to="135">135</biblScope><biblScope unit="page-count">5</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-05">1986-05</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Brain (Vertebrata)</term><term>Cardiovascular disease</term><term>Complex syndrome</term><term>Concomitant disease</term><term>Foot Diseases (congenital)</term><term>Foot Diseases (genetics)</term><term>Genes, Dominant</term><term>Humans</term><term>Infant, Newborn</term><term>Lymphatic vessel disease</term><term>Lymphedema</term><term>Lymphedema (congenital)</term><term>Lymphedema (genetics)</term><term>Male</term><term>Malformation</term><term>Microcephaly</term><term>Microcephaly (genetics)</term><term>Pediatrics</term><term>Pedigree</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Gènes dominants</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (génétique)</term><term>Maladies du pied ()</term><term>Maladies du pied (génétique)</term><term>Microcéphalie (génétique)</term><term>Mâle</term><term>Nouveau-né</term><term>Pedigree</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Foot Diseases</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Foot Diseases</term><term>Lymphedema</term><term>Microcephaly</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Maladies du pied</term><term>Microcéphalie</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Genes, Dominant</term><term>Humans</term><term>Infant, Newborn</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Gènes dominants</term><term>Humains</term><term>Lymphoedème</term><term>Maladies du pied</term><term>Mâle</term><term>Nouveau-né</term><term>Pedigree</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Appareil circulatoire pathologie</term><term>Association morbide</term><term>Encéphale</term><term>Lymphatique pathologie</term><term>Lymphoedème</term><term>Malformation</term><term>Microcéphalie</term><term>Pédiatrie</term><term>Syndrome complexe</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Pédiatrie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We discuss a family in which microcephaly and lymphedema are co‐segregating as an apparently autosomal or X‐linked dominant trait. A review of each malformation is presented with reference to the known genetic patterns of each. This combination of microcephaly and lymphedema may be a unique syndrome, previously undescribed because of subtleties of expression in affected individuals.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Ohio</li></region></list><tree><country name="États-Unis"><region name="Ohio"><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name></region><name sortKey="Dickerman, Lois H" sort="Dickerman, Lois H" uniqKey="Dickerman L" first="Lois H." last="Dickerman">Lois H. Dickerman</name><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00EC09 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00EC09 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:874075F0872FFAA371F72BA16ECF375DAADD71CB
|texte= Brief clinical report: A genetic association between microcephaly and lymphedema
}}
| This area was generated with Dilib version V0.6.31. |  |