Syndromal obesity due to paternal duplication 6(q24.3‐q27)
Identifieur interne : 00AC63 ( Main/Exploration ); précédent : 00AC62; suivant : 00AC64Syndromal obesity due to paternal duplication 6(q24.3‐q27)
Auteurs : Arabella Smith [Australie] ; Anna Jauch [Allemagne] ; Howard Slater [Australie] ; Lisa Robson [Australie] ; Tyls Sandanam [Australie]Source :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1999-05-21.
Abstract
The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. Genet. 84:125–131, 1999. © 1999 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19990521)84:2<125::AID-AJMG8>3.0.CO;2-W
Affiliations:
- Allemagne, Australie
- Bade-Wurtemberg, District de Karlsruhe, Nouvelle-Galles du Sud
- Heidelberg, Sydney
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 002285
- to stream Istex, to step Curation: 002285
- to stream Istex, to step Checkpoint: 003582
- to stream Main, to step Merge: 00B281
- to stream Main, to step Curation: 00AC63
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Syndromal obesity due to paternal duplication 6(q24.3‐q27)</title><author><name sortKey="Smith, Arabella" sort="Smith, Arabella" uniqKey="Smith A" first="Arabella" last="Smith">Arabella Smith</name></author><author><name sortKey="Jauch, Anna" sort="Jauch, Anna" uniqKey="Jauch A" first="Anna" last="Jauch">Anna Jauch</name></author><author><name sortKey="Slater, Howard" sort="Slater, Howard" uniqKey="Slater H" first="Howard" last="Slater">Howard Slater</name></author><author><name sortKey="Robson, Lisa" sort="Robson, Lisa" uniqKey="Robson L" first="Lisa" last="Robson">Lisa Robson</name></author><author><name sortKey="Sandanam, Tyls" sort="Sandanam, Tyls" uniqKey="Sandanam T" first="Tyls" last="Sandanam">Tyls Sandanam</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:4BC8AB811AF50E4D9FD7E81ED2626FB5D9F8C093</idno><date when="1999" year="1999">1999</date><idno type="doi">10.1002/(SICI)1096-8628(19990521)84:2<125::AID-AJMG8>3.0.CO;2-W</idno><idno type="url">https://api.istex.fr/document/4BC8AB811AF50E4D9FD7E81ED2626FB5D9F8C093/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002285</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002285</idno><idno type="wicri:Area/Istex/Curation">002285</idno><idno type="wicri:Area/Istex/Checkpoint">003582</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">003582</idno><idno type="wicri:doubleKey">0148-7299:1999:Smith A:syndromal:obesity:due</idno><idno type="wicri:Area/Main/Merge">00B281</idno><idno type="wicri:Area/Main/Curation">00AC63</idno><idno type="wicri:Area/Main/Exploration">00AC63</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Syndromal obesity due to paternal duplication 6(q24.3‐q27)</title><author><name sortKey="Smith, Arabella" sort="Smith, Arabella" uniqKey="Smith A" first="Arabella" last="Smith">Arabella Smith</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta</wicri:regionArea><wicri:noRegion>Parramatta</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Cytogenetics Department, Royal Alexandra Hospital for Children, P.O. Box 3515, Parramatta 2124</wicri:regionArea><wicri:noRegion>Parramatta 2124</wicri:noRegion></affiliation></author><author><name sortKey="Jauch, Anna" sort="Jauch, Anna" uniqKey="Jauch A" first="Anna" last="Jauch">Anna Jauch</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Heidelberg</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Karlsruhe</region><settlement type="city">Heidelberg</settlement></placeName></affiliation></author><author><name sortKey="Slater, Howard" sort="Slater, Howard" uniqKey="Slater H" first="Howard" last="Slater">Howard Slater</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Murdoch Institute, Royal Children's Hospital, Melbourne</wicri:regionArea><wicri:noRegion>Melbourne</wicri:noRegion></affiliation></author><author><name sortKey="Robson, Lisa" sort="Robson, Lisa" uniqKey="Robson L" first="Lisa" last="Robson">Lisa Robson</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Cytogenetics, Royal Alexandra Hospital for Children, Parramatta</wicri:regionArea><wicri:noRegion>Parramatta</wicri:noRegion></affiliation></author><author><name sortKey="Sandanam, Tyls" sort="Sandanam, Tyls" uniqKey="Sandanam T" first="Tyls" last="Sandanam">Tyls Sandanam</name><affiliation wicri:level="3"><country xml:lang="fr">Australie</country><wicri:regionArea>Marsden Centre, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></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">84</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="125">125</biblScope><biblScope unit="page" to="131">131</biblScope><biblScope unit="page-count">7</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1999-05-21">1999-05-21</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">The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23‐24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23‐qter) was detected. We present the case of a 38‐year‐old man with moderate to severe intellectual delay, short stature, small hands and feet, eye abnormality, small mouth, and obesity (without hyperphagia) beginning in mid‐childhood. The perinatal and neonatal histories were normal. The patient had a duplication within 6q. Fluorescence in situ hybrisation studies were performed with single and dual hybridisations using a chromosome 6 library probe, short and long arm subregional probes, 6q23‐24, 6q25.3‐6qter locus‐specific probes, and a 6q telomere probe. The hybridisation results defined an inverted duplication of 6q24.3 to 6q27. DNA studies with microsatellite markers from 6p and 6q showed regular biparental inheritance of chromosome 6 and confirmed that the duplication was paternal in origin. Our patient appears to be the first one known to have paternal duplication of chromosome area 6(q24‐q27) who did not have TNDM as an infant. He has remained nondiabetic, although obesity, without hyperphagia, has been a constant problem since its onset in mid‐childhood. Am. J. Med. Genet. 84:125–131, 1999. © 1999 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li></country><region><li>Bade-Wurtemberg</li><li>District de Karlsruhe</li><li>Nouvelle-Galles du Sud</li></region><settlement><li>Heidelberg</li><li>Sydney</li></settlement></list><tree><country name="Australie"><noRegion><name sortKey="Smith, Arabella" sort="Smith, Arabella" uniqKey="Smith A" first="Arabella" last="Smith">Arabella Smith</name></noRegion><name sortKey="Robson, Lisa" sort="Robson, Lisa" uniqKey="Robson L" first="Lisa" last="Robson">Lisa Robson</name><name sortKey="Sandanam, Tyls" sort="Sandanam, Tyls" uniqKey="Sandanam T" first="Tyls" last="Sandanam">Tyls Sandanam</name><name sortKey="Slater, Howard" sort="Slater, Howard" uniqKey="Slater H" first="Howard" last="Slater">Howard Slater</name><name sortKey="Smith, Arabella" sort="Smith, Arabella" uniqKey="Smith A" first="Arabella" last="Smith">Arabella Smith</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Jauch, Anna" sort="Jauch, Anna" uniqKey="Jauch A" first="Anna" last="Jauch">Anna Jauch</name></region></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 00AC63 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00AC63 | 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:4BC8AB811AF50E4D9FD7E81ED2626FB5D9F8C093
|texte= Syndromal obesity due to paternal duplication 6(q24.3‐q27)
}}
| This area was generated with Dilib version V0.6.31. |  |