Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
Identifieur interne : 003B59 ( Main/Exploration ); précédent : 003B58; suivant : 003B60Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
Auteurs : Anthony P. Y. Liu [République populaire de Chine] ; Wing Fai Tang [République populaire de Chine] ; Elizabeth T. Lau [République populaire de Chine] ; Kelvin Y. K. Chan [République populaire de Chine] ; Anita S. Y. Kan [République populaire de Chine] ; Kar Yin Wong [République populaire de Chine] ; Winnie W. Y. Tso [République populaire de Chine] ; Khair Jalal [République populaire de Chine] ; So Lun Lee [République populaire de Chine] ; Christy S. K. Chau [République populaire de Chine] ; Brian H. Y. Chung [République populaire de Chine, Hong Kong]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2013-06.
Abstract
We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2–q14 and a 25.12 kb deletion in 5pter. The 15q11.2–q14 deletion encompassed the 15q11.2–q13 Prader–Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with similar deletions in chromosome 15q exhibit expanded phenotype of severe developmental delay, protracted feeding problem, absent speech, central visual impairment, congenital malformations and epilepsy in addition to those typical of PWS. The patient reported herein had previously unreported anomalies of mega cisterna magna, horseshoe kidney and the rare neonatal interstitial lung disease known as pulmonary interstitial glycogenosis. Precise breakpoint delineation by microarray is useful in patients with atypical PWS deletions to guide investigation and prognostication. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.a.35909
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001E19
- to stream Istex, to step Curation: 001E19
- to stream Istex, to step Checkpoint: 000187
- to stream Main, to step Merge: 003B68
- to stream Main, to step Curation: 003B59
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature</title><author><name sortKey="Liu, Anthony P Y" sort="Liu, Anthony P Y" uniqKey="Liu A" first="Anthony P. Y." last="Liu">Anthony P. Y. Liu</name></author><author><name sortKey="Tang, Wing Fai" sort="Tang, Wing Fai" uniqKey="Tang W" first="Wing Fai" last="Tang">Wing Fai Tang</name></author><author><name sortKey="Lau, Elizabeth T" sort="Lau, Elizabeth T" uniqKey="Lau E" first="Elizabeth T." last="Lau">Elizabeth T. Lau</name></author><author><name sortKey="Chan, Kelvin Y K" sort="Chan, Kelvin Y K" uniqKey="Chan K" first="Kelvin Y. K." last="Chan">Kelvin Y. K. Chan</name></author><author><name sortKey="Kan, Anita S Y" sort="Kan, Anita S Y" uniqKey="Kan A" first="Anita S. Y." last="Kan">Anita S. Y. Kan</name></author><author><name sortKey="Wong, Kar Yin" sort="Wong, Kar Yin" uniqKey="Wong K" first="Kar Yin" last="Wong">Kar Yin Wong</name></author><author><name sortKey="Tso, Winnie W Y" sort="Tso, Winnie W Y" uniqKey="Tso W" first="Winnie W. Y." last="Tso">Winnie W. Y. Tso</name></author><author><name sortKey="Jalal, Khair" sort="Jalal, Khair" uniqKey="Jalal K" first="Khair" last="Jalal">Khair Jalal</name></author><author><name sortKey="Lee, So Lun" sort="Lee, So Lun" uniqKey="Lee S" first="So Lun" last="Lee">So Lun Lee</name></author><author><name sortKey="Chau, Christy S K" sort="Chau, Christy S K" uniqKey="Chau C" first="Christy S. K." last="Chau">Christy S. K. Chau</name></author><author><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H. Y." last="Chung">Brian H. Y. Chung</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:41F578E8351B427175839A79326F41215A9B9267</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1002/ajmg.a.35909</idno><idno type="url">https://api.istex.fr/document/41F578E8351B427175839A79326F41215A9B9267/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001E19</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001E19</idno><idno type="wicri:Area/Istex/Curation">001E19</idno><idno type="wicri:Area/Istex/Checkpoint">000187</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000187</idno><idno type="wicri:doubleKey">1552-4825:2013:Liu A:expanded:prader:willi</idno><idno type="wicri:Area/Main/Merge">003B68</idno><idno type="wicri:Area/Main/Curation">003B59</idno><idno type="wicri:Area/Main/Exploration">003B59</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main">Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature<ref type="note" target="#ajmga35909-note-0003"></ref></title><author><name sortKey="Liu, Anthony P Y" sort="Liu, Anthony P Y" uniqKey="Liu A" first="Anthony P. Y." last="Liu">Anthony P. Y. Liu</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Tang, Wing Fai" sort="Tang, Wing Fai" uniqKey="Tang W" first="Wing Fai" last="Tang">Wing Fai Tang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Lau, Elizabeth T" sort="Lau, Elizabeth T" uniqKey="Lau E" first="Elizabeth T." last="Lau">Elizabeth T. Lau</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Chan, Kelvin Y K" sort="Chan, Kelvin Y K" uniqKey="Chan K" first="Kelvin Y. K." last="Chan">Kelvin Y. K. Chan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Kan, Anita S Y" sort="Kan, Anita S Y" uniqKey="Kan A" first="Anita S. Y." last="Kan">Anita S. Y. Kan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Wong, Kar Yin" sort="Wong, Kar Yin" uniqKey="Wong K" first="Kar Yin" last="Wong">Kar Yin Wong</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Tso, Winnie W Y" sort="Tso, Winnie W Y" uniqKey="Tso W" first="Winnie W. Y." last="Tso">Winnie W. Y. Tso</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Jalal, Khair" sort="Jalal, Khair" uniqKey="Jalal K" first="Khair" last="Jalal">Khair Jalal</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Lee, So Lun" sort="Lee, So Lun" uniqKey="Lee S" first="So Lun" last="Lee">So Lun Lee</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Chau, Christy S K" sort="Chau, Christy S K" uniqKey="Chau C" first="Christy S. K." last="Chau">Christy S. K. Chau</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation></author><author><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H. Y." last="Chung">Brian H. Y. Chung</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region</wicri:regionArea><wicri:noRegion>Hong Kong Special Administrative Region</wicri:noRegion></affiliation><affiliation></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Hong Kong</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS PART A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">161</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1309">1309</biblScope><biblScope unit="page" to="1318">1318</biblScope><biblScope unit="page-count">10</biblScope><date type="published" when="2013-06">2013-06</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2–q14 and a 25.12 kb deletion in 5pter. The 15q11.2–q14 deletion encompassed the 15q11.2–q13 Prader–Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with similar deletions in chromosome 15q exhibit expanded phenotype of severe developmental delay, protracted feeding problem, absent speech, central visual impairment, congenital malformations and epilepsy in addition to those typical of PWS. The patient reported herein had previously unreported anomalies of mega cisterna magna, horseshoe kidney and the rare neonatal interstitial lung disease known as pulmonary interstitial glycogenosis. Precise breakpoint delineation by microarray is useful in patients with atypical PWS deletions to guide investigation and prognostication. © 2013 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Hong Kong</li><li>République populaire de Chine</li></country></list><tree><country name="République populaire de Chine"><noRegion><name sortKey="Liu, Anthony P Y" sort="Liu, Anthony P Y" uniqKey="Liu A" first="Anthony P. Y." last="Liu">Anthony P. Y. Liu</name></noRegion><name sortKey="Chan, Kelvin Y K" sort="Chan, Kelvin Y K" uniqKey="Chan K" first="Kelvin Y. K." last="Chan">Kelvin Y. K. Chan</name><name sortKey="Chan, Kelvin Y K" sort="Chan, Kelvin Y K" uniqKey="Chan K" first="Kelvin Y. K." last="Chan">Kelvin Y. K. Chan</name><name sortKey="Chau, Christy S K" sort="Chau, Christy S K" uniqKey="Chau C" first="Christy S. K." last="Chau">Christy S. K. Chau</name><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H. Y." last="Chung">Brian H. Y. Chung</name><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H. Y." last="Chung">Brian H. Y. Chung</name><name sortKey="Jalal, Khair" sort="Jalal, Khair" uniqKey="Jalal K" first="Khair" last="Jalal">Khair Jalal</name><name sortKey="Kan, Anita S Y" sort="Kan, Anita S Y" uniqKey="Kan A" first="Anita S. Y." last="Kan">Anita S. Y. Kan</name><name sortKey="Kan, Anita S Y" sort="Kan, Anita S Y" uniqKey="Kan A" first="Anita S. Y." last="Kan">Anita S. Y. Kan</name><name sortKey="Lau, Elizabeth T" sort="Lau, Elizabeth T" uniqKey="Lau E" first="Elizabeth T." last="Lau">Elizabeth T. Lau</name><name sortKey="Lau, Elizabeth T" sort="Lau, Elizabeth T" uniqKey="Lau E" first="Elizabeth T." last="Lau">Elizabeth T. Lau</name><name sortKey="Lee, So Lun" sort="Lee, So Lun" uniqKey="Lee S" first="So Lun" last="Lee">So Lun Lee</name><name sortKey="Tang, Wing Fai" sort="Tang, Wing Fai" uniqKey="Tang W" first="Wing Fai" last="Tang">Wing Fai Tang</name><name sortKey="Tso, Winnie W Y" sort="Tso, Winnie W Y" uniqKey="Tso W" first="Winnie W. Y." last="Tso">Winnie W. Y. Tso</name><name sortKey="Wong, Kar Yin" sort="Wong, Kar Yin" uniqKey="Wong K" first="Kar Yin" last="Wong">Kar Yin Wong</name></country><country name="Hong Kong"><noRegion><name sortKey="Chung, Brian H Y" sort="Chung, Brian H Y" uniqKey="Chung B" first="Brian H. Y." last="Chung">Brian H. Y. Chung</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 003B59 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003B59 | 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:41F578E8351B427175839A79326F41215A9B9267
|texte= Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
}}
| This area was generated with Dilib version V0.6.31. |  |