LymphedemaV1, France, Analysis, bibRecord, 000A46

[Hereditary congenital lymphedema with pseudosexual ambiguity].

Identifieur interne : 000A46 ( France/Analysis ); précédent : 000A45; suivant : 000A47

[Hereditary congenital lymphedema with pseudosexual ambiguity].

Auteurs : P. Sarda [France] ; J. Jalaguier ; F. Montoya ; H. Bonnet

Source :

Journal de genetique humaine [ 0021-7743 ] ; 1988.

RBID : pubmed:3221210

Descripteurs français

KwdFr :
- Caryotypage, Femelle, Humains, Lymphoedème (), Lymphoedème (génétique), Mâle, Nouveau-né, Pedigree, Troubles du développement sexuel (), Troubles du développement sexuel (génétique).
MESH :
- génétique : Lymphoedème, Troubles du développement sexuel.
- Caryotypage, Femelle, Humains, Lymphoedème, Mâle, Nouveau-né, Pedigree, Troubles du développement sexuel.

English descriptors

KwdEn :
- Disorders of Sex Development (complications), Disorders of Sex Development (genetics), Female, Humans, Infant, Newborn, Karyotyping, Lymphedema (complications), Lymphedema (congenital), Lymphedema (genetics), Male, Pedigree.
MESH :
- complications : Disorders of Sex Development, Lymphedema.
- congenital : Lymphedema.
- genetics : Disorders of Sex Development, Lymphedema.
- Female, Humans, Infant, Newborn, Karyotyping, Male, Pedigree.

Abstract

A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.

PubMed: 3221210

Affiliations:

Links to Exploration step

pubmed:3221210

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">[Hereditary congenital lymphedema with pseudosexual ambiguity].</title>
<author><name sortKey="Sarda, P" sort="Sarda, P" uniqKey="Sarda P" first="P" last="Sarda">P. Sarda</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie Néo-Natale, Hôpital Saint Charles, Montpellier.</nlm:affiliation>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<wicri:orgArea>Service de Pédiatrie Néo-Natale, Hôpital Saint Charles</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Jalaguier, J" sort="Jalaguier, J" uniqKey="Jalaguier J" first="J" last="Jalaguier">J. Jalaguier</name>
</author>
<author><name sortKey="Montoya, F" sort="Montoya, F" uniqKey="Montoya F" first="F" last="Montoya">F. Montoya</name>
</author>
<author><name sortKey="Bonnet, H" sort="Bonnet, H" uniqKey="Bonnet H" first="H" last="Bonnet">H. Bonnet</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="1988">1988</date>
<idno type="RBID">pubmed:3221210</idno>
<idno type="pmid">3221210</idno>
<idno type="wicri:Area/PubMed/Corpus">006148</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">006148</idno>
<idno type="wicri:Area/PubMed/Curation">006148</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">006148</idno>
<idno type="wicri:Area/PubMed/Checkpoint">006148</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">006148</idno>
<idno type="wicri:Area/Ncbi/Merge">009629</idno>
<idno type="wicri:Area/Ncbi/Curation">009629</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">009629</idno>
<idno type="wicri:doubleKey">0021-7743:1988:Sarda P:hereditary:congenital:lymphedema</idno>
<idno type="wicri:Area/Main/Merge">00EE48</idno>
<idno type="wicri:Area/Main/Curation">00E192</idno>
<idno type="wicri:Area/Main/Exploration">00E192</idno>
<idno type="wicri:Area/France/Extraction">000A46</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">[Hereditary congenital lymphedema with pseudosexual ambiguity].</title>
<author><name sortKey="Sarda, P" sort="Sarda, P" uniqKey="Sarda P" first="P" last="Sarda">P. Sarda</name>
<affiliation wicri:level="3"><nlm:affiliation>Service de Pédiatrie Néo-Natale, Hôpital Saint Charles, Montpellier.</nlm:affiliation>
<country>France</country>
<placeName><settlement type="city">Montpellier</settlement>
<region type="region" nuts="2">Occitanie (région administrative)</region>
<region type="old region" nuts="2">Languedoc-Roussillon</region>
</placeName>
<wicri:orgArea>Service de Pédiatrie Néo-Natale, Hôpital Saint Charles</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Jalaguier, J" sort="Jalaguier, J" uniqKey="Jalaguier J" first="J" last="Jalaguier">J. Jalaguier</name>
</author>
<author><name sortKey="Montoya, F" sort="Montoya, F" uniqKey="Montoya F" first="F" last="Montoya">F. Montoya</name>
</author>
<author><name sortKey="Bonnet, H" sort="Bonnet, H" uniqKey="Bonnet H" first="H" last="Bonnet">H. Bonnet</name>
</author>
</analytic>
<series><title level="j">Journal de genetique humaine</title>
<idno type="ISSN">0021-7743</idno>
<imprint><date when="1988" type="published">1988</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Disorders of Sex Development (complications)</term>
<term>Disorders of Sex Development (genetics)</term>
<term>Female</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Karyotyping</term>
<term>Lymphedema (complications)</term>
<term>Lymphedema (congenital)</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Caryotypage</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème ()</term>
<term>Lymphoedème (génétique)</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Troubles du développement sexuel ()</term>
<term>Troubles du développement sexuel (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Disorders of Sex Development</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Disorders of Sex Development</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Troubles du développement sexuel</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Humans</term>
<term>Infant, Newborn</term>
<term>Karyotyping</term>
<term>Male</term>
<term>Pedigree</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Caryotypage</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème</term>
<term>Mâle</term>
<term>Nouveau-né</term>
<term>Pedigree</term>
<term>Troubles du développement sexuel</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.</div>
</front>
</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Languedoc-Roussillon</li>
<li>Occitanie (région administrative)</li>
</region>
<settlement><li>Montpellier</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Bonnet, H" sort="Bonnet, H" uniqKey="Bonnet H" first="H" last="Bonnet">H. Bonnet</name>
<name sortKey="Jalaguier, J" sort="Jalaguier, J" uniqKey="Jalaguier J" first="J" last="Jalaguier">J. Jalaguier</name>
<name sortKey="Montoya, F" sort="Montoya, F" uniqKey="Montoya F" first="F" last="Montoya">F. Montoya</name>
</noCountry>
<country name="France"><region name="Occitanie (région administrative)"><name sortKey="Sarda, P" sort="Sarda, P" uniqKey="Sarda P" first="P" last="Sarda">P. Sarda</name>
</region>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/France/Analysis

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000A46 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/France/Analysis/biblio.hfd -nk 000A46 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    France
   |étape=   Analysis
   |type=    RBID
   |clé=     pubmed:3221210
   |texte=   [Hereditary congenital lymphedema with pseudosexual ambiguity].
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/France/Analysis/RBID.i   -Sk "pubmed:3221210" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/France/Analysis/biblio.hfd   \
       | NlmPubMed2Wicri -a LymphedemaV1

This area was generated with Dilib version V0.6.31.
Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024

Serveur d'exploration sur le lymphœdème

[Hereditary congenital lymphedema with pseudosexual ambiguity].

[Hereditary congenital lymphedema with pseudosexual ambiguity].

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.