Classical Noonan syndrome is not associated with deletions of 22q11
Identifieur interne : 00C655 ( Main/Exploration ); précédent : 00C654; suivant : 00C656Classical Noonan syndrome is not associated with deletions of 22q11
Auteurs : Nathaniel H. Robin [États-Unis] ; Beatrice Sellinger [États-Unis] ; Donna Mcdonald-Mcginn [États-Unis] ; Elaine H. Zackai [États-Unis] ; Beverly S. Emanuel [États-Unis] ; Deborah A. Driscoll [États-Unis]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1995-03-13.
Abstract
Deletions of 22qll cause DiGeorge sequence (DGS), velo‐cardio‐facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22qll deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22qll deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22qll deletion. A 2‐month‐old infant with several findings suggestive of NS did have a 22qll deletion, suggesting that a small number of 22qll deletion propositi may present with a NS‐like picture. However, most cases of NS must have another cause. © 1995 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.1320560121
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 003C03
- to stream Istex, to step Curation: 003C03
- to stream Istex, to step Checkpoint: 004912
- to stream Main, to step Merge: 00CF71
- to stream Main, to step Curation: 00C655
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Classical Noonan syndrome is not associated with deletions of 22q11</title><author><name sortKey="Robin, Nathaniel H" sort="Robin, Nathaniel H" uniqKey="Robin N" first="Nathaniel H." last="Robin">Nathaniel H. Robin</name></author><author><name sortKey="Sellinger, Beatrice" sort="Sellinger, Beatrice" uniqKey="Sellinger B" first="Beatrice" last="Sellinger">Beatrice Sellinger</name></author><author><name sortKey="Mcdonald Cginn, Donna" sort="Mcdonald Cginn, Donna" uniqKey="Mcdonald Cginn D" first="Donna" last="Mcdonald-Mcginn">Donna Mcdonald-Mcginn</name></author><author><name sortKey="Zackai, Elaine H" sort="Zackai, Elaine H" uniqKey="Zackai E" first="Elaine H." last="Zackai">Elaine H. Zackai</name></author><author><name sortKey="Emanuel, Beverly S" sort="Emanuel, Beverly S" uniqKey="Emanuel B" first="Beverly S." last="Emanuel">Beverly S. Emanuel</name></author><author><name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:7F8F1899143DE37D95F66ED0275084B720A2331C</idno><date when="1995" year="1995">1995</date><idno type="doi">10.1002/ajmg.1320560121</idno><idno type="url">https://api.istex.fr/document/7F8F1899143DE37D95F66ED0275084B720A2331C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003C03</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003C03</idno><idno type="wicri:Area/Istex/Curation">003C03</idno><idno type="wicri:Area/Istex/Checkpoint">004912</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">004912</idno><idno type="wicri:doubleKey">0148-7299:1995:Robin N:classical:noonan:syndrome</idno><idno type="wicri:Area/Main/Merge">00CF71</idno><idno type="wicri:Area/Main/Curation">00C655</idno><idno type="wicri:Area/Main/Exploration">00C655</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Classical Noonan syndrome is not associated with deletions of 22q11</title><author><name sortKey="Robin, Nathaniel H" sort="Robin, Nathaniel H" uniqKey="Robin N" first="Nathaniel H." last="Robin">Nathaniel H. Robin</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Sellinger, Beatrice" sort="Sellinger, Beatrice" uniqKey="Sellinger B" first="Beatrice" last="Sellinger">Beatrice Sellinger</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Mcdonald Cginn, Donna" sort="Mcdonald Cginn, Donna" uniqKey="Mcdonald Cginn D" first="Donna" last="Mcdonald-Mcginn">Donna Mcdonald-Mcginn</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Zackai, Elaine H" sort="Zackai, Elaine H" uniqKey="Zackai E" first="Elaine H." last="Zackai">Elaine H. Zackai</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Emanuel, Beverly S" sort="Emanuel, Beverly S" uniqKey="Emanuel B" first="Beverly S." last="Emanuel">Beverly S. Emanuel</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Human Genetics and Molecular Biology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Division of Reproductive Genetics, Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia</wicri:cityArea></affiliation><affiliation></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">56</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="94">94</biblScope><biblScope unit="page" to="96">96</biblScope><biblScope unit="page-count">3</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1995-03-13">1995-03-13</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Deletions of 22qll cause DiGeorge sequence (DGS), velo‐cardio‐facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22qll deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22qll deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22qll deletion. A 2‐month‐old infant with several findings suggestive of NS did have a 22qll deletion, suggesting that a small number of 22qll deletion propositi may present with a NS‐like picture. However, most cases of NS must have another cause. © 1995 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Pennsylvanie</li></region></list><tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Robin, Nathaniel H" sort="Robin, Nathaniel H" uniqKey="Robin N" first="Nathaniel H." last="Robin">Nathaniel H. Robin</name></region><name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name><name sortKey="Driscoll, Deborah A" sort="Driscoll, Deborah A" uniqKey="Driscoll D" first="Deborah A." last="Driscoll">Deborah A. Driscoll</name><name sortKey="Emanuel, Beverly S" sort="Emanuel, Beverly S" uniqKey="Emanuel B" first="Beverly S." last="Emanuel">Beverly S. Emanuel</name><name sortKey="Mcdonald Cginn, Donna" sort="Mcdonald Cginn, Donna" uniqKey="Mcdonald Cginn D" first="Donna" last="Mcdonald-Mcginn">Donna Mcdonald-Mcginn</name><name sortKey="Sellinger, Beatrice" sort="Sellinger, Beatrice" uniqKey="Sellinger B" first="Beatrice" last="Sellinger">Beatrice Sellinger</name><name sortKey="Zackai, Elaine H" sort="Zackai, Elaine H" uniqKey="Zackai E" first="Elaine H." last="Zackai">Elaine H. Zackai</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 00C655 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00C655 | 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:7F8F1899143DE37D95F66ED0275084B720A2331C
|texte= Classical Noonan syndrome is not associated with deletions of 22q11
}}
| This area was generated with Dilib version V0.6.31. |  |