Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.
Identifieur interne : 003800 ( Main/Exploration ); précédent : 003799; suivant : 003801Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.
Auteurs : H T El-Bassyouni [Égypte] ; A. El-Gerzawy ; O. Eid ; M O El-RubySource :
- Genetic counseling (Geneva, Switzerland) [ 1015-8146 ] ; 2013.
Descripteurs français
- KwdFr :
- MESH :
- Wicri :
- geographic : Égypte.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Genetic Markers.
- geographic : Egypt.
- genetics : Chromosomes, Human, X, Chromosomes, Human, Y, Turner Syndrome.
- methods : Cytogenetic Analysis, In Situ Hybridization, Fluorescence, Karyotyping.
- Child, Preschool, Female, Humans.
Abstract
We report on a female with Turner syndrome phenotype and an isodicentric Y chromosome 46, X, idicYq a combination which has to the best of our knowledge not been reported before.
PubMed: 23610863
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 001B81
- to stream PubMed, to step Curation: 001B81
- to stream PubMed, to step Checkpoint: 001B81
- to stream Ncbi, to step Merge: 005850
- to stream Ncbi, to step Curation: 005850
- to stream Ncbi, to step Checkpoint: 005850
- to stream Main, to step Merge: 003808
- to stream Main, to step Curation: 003800
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.</title><author><name sortKey="El Bassyouni, H T" sort="El Bassyouni, H T" uniqKey="El Bassyouni H" first="H T" last="El-Bassyouni">H T El-Bassyouni</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Department, National Research Centre, Egypt. halahassyouni@yahoo.com</nlm:affiliation><country xml:lang="fr">Égypte</country><wicri:regionArea>Clinical Genetics Department, National Research Centre</wicri:regionArea><wicri:noRegion>National Research Centre</wicri:noRegion></affiliation></author><author><name sortKey="El Gerzawy, A" sort="El Gerzawy, A" uniqKey="El Gerzawy A" first="A" last="El-Gerzawy">A. El-Gerzawy</name></author><author><name sortKey="Eid, O" sort="Eid, O" uniqKey="Eid O" first="O" last="Eid">O. Eid</name></author><author><name sortKey="El Ruby, M O" sort="El Ruby, M O" uniqKey="El Ruby M" first="M O" last="El-Ruby">M O El-Ruby</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23610863</idno><idno type="pmid">23610863</idno><idno type="wicri:Area/PubMed/Corpus">001B81</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001B81</idno><idno type="wicri:Area/PubMed/Curation">001B81</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001B81</idno><idno type="wicri:Area/PubMed/Checkpoint">001B81</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001B81</idno><idno type="wicri:Area/Ncbi/Merge">005850</idno><idno type="wicri:Area/Ncbi/Curation">005850</idno><idno type="wicri:Area/Ncbi/Checkpoint">005850</idno><idno type="wicri:doubleKey">1015-8146:2013:El Bassyouni H:clinical:and:cytogenetic</idno><idno type="wicri:Area/Main/Merge">003808</idno><idno type="wicri:Area/Main/Curation">003800</idno><idno type="wicri:Area/Main/Exploration">003800</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.</title><author><name sortKey="El Bassyouni, H T" sort="El Bassyouni, H T" uniqKey="El Bassyouni H" first="H T" last="El-Bassyouni">H T El-Bassyouni</name><affiliation wicri:level="1"><nlm:affiliation>Clinical Genetics Department, National Research Centre, Egypt. halahassyouni@yahoo.com</nlm:affiliation><country xml:lang="fr">Égypte</country><wicri:regionArea>Clinical Genetics Department, National Research Centre</wicri:regionArea><wicri:noRegion>National Research Centre</wicri:noRegion></affiliation></author><author><name sortKey="El Gerzawy, A" sort="El Gerzawy, A" uniqKey="El Gerzawy A" first="A" last="El-Gerzawy">A. El-Gerzawy</name></author><author><name sortKey="Eid, O" sort="Eid, O" uniqKey="Eid O" first="O" last="Eid">O. Eid</name></author><author><name sortKey="El Ruby, M O" sort="El Ruby, M O" uniqKey="El Ruby M" first="M O" last="El-Ruby">M O El-Ruby</name></author></analytic><series><title level="j">Genetic counseling (Geneva, Switzerland)</title><idno type="ISSN">1015-8146</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child, Preschool</term><term>Chromosomes, Human, X (genetics)</term><term>Chromosomes, Human, Y (genetics)</term><term>Cytogenetic Analysis (methods)</term><term>Egypt</term><term>Female</term><term>Genetic Markers (genetics)</term><term>Humans</term><term>In Situ Hybridization, Fluorescence (methods)</term><term>Karyotyping (methods)</term><term>Turner Syndrome (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Analyse cytogénétique ()</term><term>Caryotypage ()</term><term>Chromosomes X humains (génétique)</term><term>Chromosomes Y humains (génétique)</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Marqueurs génétiques (génétique)</term><term>Syndrome de Turner (génétique)</term><term>Technique FISH ()</term><term>Égypte</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Egypt</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, X</term><term>Chromosomes, Human, Y</term><term>Turner Syndrome</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes X humains</term><term>Chromosomes Y humains</term><term>Marqueurs génétiques</term><term>Syndrome de Turner</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Cytogenetic Analysis</term><term>In Situ Hybridization, Fluorescence</term><term>Karyotyping</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child, Preschool</term><term>Female</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Analyse cytogénétique</term><term>Caryotypage</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Technique FISH</term><term>Égypte</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Égypte</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a female with Turner syndrome phenotype and an isodicentric Y chromosome 46, X, idicYq a combination which has to the best of our knowledge not been reported before.</div></front></TEI><affiliations><list><country><li>Égypte</li></country></list><tree><noCountry><name sortKey="Eid, O" sort="Eid, O" uniqKey="Eid O" first="O" last="Eid">O. Eid</name><name sortKey="El Gerzawy, A" sort="El Gerzawy, A" uniqKey="El Gerzawy A" first="A" last="El-Gerzawy">A. El-Gerzawy</name><name sortKey="El Ruby, M O" sort="El Ruby, M O" uniqKey="El Ruby M" first="M O" last="El-Ruby">M O El-Ruby</name></noCountry><country name="Égypte"><noRegion><name sortKey="El Bassyouni, H T" sort="El Bassyouni, H T" uniqKey="El Bassyouni H" first="H T" last="El-Bassyouni">H T El-Bassyouni</name></noRegion></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 003800 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003800 | 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= pubmed:23610863
|texte= Clinical and cytogenetic study of a non mosaic 46, X, isodicentric Yq in an Egyptian patient with Turner syndrome.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23610863" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |