Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
Identifieur interne : 001E19 ( Istex/Corpus ); précédent : 001E18; suivant : 001E20Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
Auteurs : Anthony P. Y. Liu ; Wing Fai Tang ; Elizabeth T. Lau ; Kelvin Y. K. Chan ; Anita S. Y. Kan ; Kar Yin Wong ; Winnie W. Y. Tso ; Khair Jalal ; So Lun Lee ; Christy S. K. Chau ; Brian H. Y. ChungSource :
- 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.
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DOI: 10.1002/ajmg.a.35909
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Liu</name><affiliation><mods:affiliation>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, China</mods:affiliation></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><mods:affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</mods:affiliation></affiliation></author><author><name sortKey="Lau, Elizabeth T" sort="Lau, Elizabeth T" uniqKey="Lau E" first="Elizabeth T." last="Lau">Elizabeth T. 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Chung, 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, China.E‐mail:</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: bhychung@hku.hk</mods:affiliation></affiliation></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></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><mods:affiliation>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, China</mods:affiliation></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><mods:affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</mods:affiliation></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><mods:affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</mods:affiliation></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><mods:affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</mods:affiliation></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><mods:affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</mods:affiliation></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><mods:affiliation>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, China</mods:affiliation></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><mods:affiliation>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, China</mods:affiliation></affiliation></author><author><name sortKey="Jalal, Khair" sort="Jalal, Khair" uniqKey="Jalal K" first="Khair" last="Jalal">Khair Jalal</name><affiliation><mods:affiliation>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, China</mods:affiliation></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><mods:affiliation>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, China</mods:affiliation></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><mods:affiliation>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, China</mods:affiliation></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><mods:affiliation>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, China</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence to:Brian H.Y. Chung, 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, China.E‐mail:</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: bhychung@hku.hk</mods:affiliation></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><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>deletion</json:string><json:string>chromosome</json:string><json:string>genet</json:string><json:string>cassidy</json:string><json:string>translocation</json:string><json:string>genomic</json:string><json:string>breakpoint</json:string><json:string>phenotype</json:string><json:string>acgh</json:string><json:string>methylation</json:string><json:string>pauli</json:string><json:string>windpassinger</json:string><json:string>duckett</json:string><json:string>varela</json:string><json:string>interstitial deletion</json:string><json:string>ming</json:string><json:string>hybridization</json:string><json:string>syndrome</json:string><json:string>uvula</json:string><json:string>calounova</json:string><json:string>matsumura</json:string><json:string>galan</json:string><json:string>mori</json:string><json:string>genet part</json:string><json:string>abnormality</json:string><json:string>kucerova</json:string><json:string>centile</json:string><json:string>unbalanced translocation</json:string><json:string>database</json:string><json:string>developmental delay</json:string><json:string>hong kong</json:string><json:string>malformation</json:string><json:string>genomic hybridization</json:string><json:string>interstitial lung disease</json:string><json:string>horseshoe kidney</json:string><json:string>interstitial</json:string><json:string>medical genetics part</json:string><json:string>administrative region</json:string><json:string>american journal</json:string><json:string>aven gene</json:string><json:string>mega cisterna magna</json:string><json:string>cleft palate</json:string><json:string>queen mary hospital</json:string><json:string>bifid uvula</json:string><json:string>chromosome deletion</json:string><json:string>cerebral atrophy</json:string><json:string>congenital heart disease</json:string><json:string>anomaly</json:string><json:string>patent ductus arteriosus</json:string><json:string>copy number loss</json:string><json:string>shing faculty</json:string><json:string>critical region</json:string><json:string>genomic coordinates</json:string><json:string>facial dysmorphisms</json:string><json:string>hypoplastic scrotum</json:string><json:string>unbalanced translocations</json:string><json:string>small hands</json:string><json:string>lung disease</json:string><json:string>intellectual disability</json:string><json:string>palate</json:string><json:string>bilateral</json:string></teeft></keywords><author><json:item><name>Anthony P.Y. Liu</name><affiliations><json:string>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, China</json:string></affiliations></json:item><json:item><name>Wing Fai Tang</name><affiliations><json:string>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</json:string></affiliations></json:item><json:item><name>Elizabeth T. Lau</name><affiliations><json:string>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</json:string><json:string>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</json:string></affiliations></json:item><json:item><name>Kelvin Y.K. Chan</name><affiliations><json:string>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</json:string><json:string>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</json:string></affiliations></json:item><json:item><name>Anita S.Y. Kan</name><affiliations><json:string>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</json:string><json:string>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</json:string></affiliations></json:item><json:item><name>Kar Yin Wong</name><affiliations><json:string>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, China</json:string></affiliations></json:item><json:item><name>Winnie W.Y. Tso</name><affiliations><json:string>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, China</json:string></affiliations></json:item><json:item><name>Khair Jalal</name><affiliations><json:string>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, China</json:string></affiliations></json:item><json:item><name>So Lun Lee</name><affiliations><json:string>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, China</json:string></affiliations></json:item><json:item><name>Christy S.K. Chau</name><affiliations><json:string>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, China</json:string></affiliations></json:item><json:item><name>Brian H.Y. Chung</name><affiliations><json:string>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, China</json:string><json:string>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</json:string><json:string>Correspondence to:Brian H.Y. Chung, 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, China.E‐mail:</json:string><json:string>E-mail: bhychung@hku.hk</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Prader–Willi syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chromosome15q13.3 deletion</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>array comparative genomic hybridization</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>pulmonary interstitial glycogenosis</value></json:item></subject><articleId><json:string>AJMGA35909</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><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.</abstract><qualityIndicators><score>6.266</score><pdfVersion>1.3</pdfVersion><pdfPageSize>593.972 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>1022</abstractCharCount><pdfWordCount>4610</pdfWordCount><pdfCharCount>32436</pdfCharCount><pdfPageCount>10</pdfPageCount><abstractWordCount>138</abstractWordCount></qualityIndicators><title>Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature</title><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics Part 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target="#ajmga35909-note-0003"></ref></title></titleStmt><publicationStmt><publisher>Blackwell Publishing Ltd</publisher><availability><licence>Copyright © 2013 Wiley Periodicals, Inc.</licence></availability><date type="published" when="2013-06"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><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 xml:id="author-0000"><persName><forename type="first">Anthony P.Y.</forename><surname>Liu</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Wing Fai</forename><surname>Tang</surname></persName><affiliation><orgName>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine</orgName><orgName>The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Elizabeth T.</forename><surname>Lau</surname></persName><affiliation><orgName>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine</orgName><orgName>The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation><affiliation><orgName>Department of Obstetrics and Gynaecology</orgName><orgName>Queen Mary Hospital</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Kelvin Y.K.</forename><surname>Chan</surname></persName><affiliation><orgName>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine</orgName><orgName>The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation><affiliation><orgName>Department of Obstetrics and Gynaecology</orgName><orgName>Queen Mary Hospital</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Anita S.Y.</forename><surname>Kan</surname></persName><affiliation><orgName>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine</orgName><orgName>The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation><affiliation><orgName>Department of Obstetrics and Gynaecology</orgName><orgName>Queen Mary Hospital</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Kar Yin</forename><surname>Wong</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Winnie W.Y.</forename><surname>Tso</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Khair</forename><surname>Jalal</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">So Lun</forename><surname>Lee</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Christy S.K.</forename><surname>Chau</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation></author><author xml:id="author-0010" role="corresp"><persName><forename type="first">Brian H.Y.</forename><surname>Chung</surname></persName><affiliation><orgName>Department of Paediatrics and Adolescent Medicine</orgName><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation><affiliation><orgName>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine</orgName><orgName>The University of Hong Kong</orgName><address><settlement type="city">Hong Kong Special Administrative Region</settlement><country key="CN">China</country></address></affiliation><affiliation>Correspondence to: Brian H.Y. Chung, 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, China. E‐mail: bhychung@hku.hk</affiliation></author><idno type="istex">41F578E8351B427175839A79326F41215A9B9267</idno><idno type="DOI">10.1002/ajmg.a.35909</idno><idno type="unit">AJMGA35909</idno><idno type="toTypesetVersion">file:AJMG.AJMGA35909.pdf</idno></analytic><monogr><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="pISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><idno type="book-DOI">10.1002/(ISSN)1552-4833</idno><idno type="book-part-DOI">10.1002/ajmg.a.v161a.6</idno><idno type="product">AJMG</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"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>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.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="ajmga35909-kwd-0001">Prader–Willi syndrome</term><term xml:id="ajmga35909-kwd-0002">chromosome15q13.3 deletion</term><term xml:id="ajmga35909-kwd-0003">array comparative genomic hybridization</term><term xml:id="ajmga35909-kwd-0004">pulmonary interstitial glycogenosis</term></keywords><classCode scheme="articleCategory">Research Article</classCode><classCode scheme="tocHeading1">Research Articles</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/41F578E8351B427175839A79326F41215A9B9267/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" xml:lang="en" type="serialArticle" xml:id="AJMGA35909"><header><publicationMeta level="product"><doi origin="wiley" registered="yes">10.1002/(ISSN)1552-4833</doi><issn type="print">1552-4825</issn><issn type="electronic">1552-4833</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" sort="AMERICAN JOURNAL OF MEDICAL GENETICS PART A">American Journal of Medical Genetics Part A</title><title type="short">Am. J. Med. Genet.</title></titleGroup></publicationMeta><publicationMeta level="part" position="60"><doi registered="yes">10.1002/ajmg.a.v161a.6</doi><copyright ownership="publisher">Copyright © 2013 Wiley Periodicals, Inc.</copyright><numberingGroup><numbering type="journalVolume" number="161">161</numbering><numbering type="journalIssue">6</numbering></numberingGroup><coverDate startDate="2013-06">June 2013</coverDate></publicationMeta><publicationMeta level="unit" position="160" type="article" status="forIssue"><doi>10.1002/ajmg.a.35909</doi><idGroup><id type="unit" value="AJMGA35909"></id></idGroup><countGroup><count type="pageTotal" number="10"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="publisher">Copyright © 2013 Wiley Periodicals, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2012-09-06"></event><event type="manuscriptAccepted" date="2013-01-25"></event><event type="xmlCreated" agent="Thomson Digital" date="2013-02-08"></event><event type="publishedOnlineEarlyUnpaginated" date="2013-04-30"></event><event type="firstOnline" date="2013-04-30"></event><event type="publishedOnlineFinalForm" date="2013-05-22"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.6.4 mode:FullText" date="2015-10-04"></event></eventGroup><numberingGroup><numbering type="pageFirst">1309</numbering><numbering type="pageLast">1318</numbering></numberingGroup><correspondenceTo><lineatedText><line>Correspondence to:</line><line>Brian H.Y. Chung, 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, China.</line><line>E‐mail: <email>bhychung@hku.hk</email></line></lineatedText></correspondenceTo><selfCitationGroup><citation xml:id="ajmga35909-cit-000A" type="self"><author><familyName>Liu</familyName> <givenNames>APY</givenNames></author>,
<author><familyName>Tang</familyName> <givenNames>WF</givenNames></author>,
<author><familyName>Lau</familyName> <givenNames>ET</givenNames></author>,
<author><familyName>Chan</familyName> <givenNames>KYK</givenNames></author>,
<author><familyName>Kan</familyName> <givenNames>ASY</givenNames></author>,
<author><familyName>Wong</familyName> <givenNames>KY</givenNames></author>,
<author><familyName>Tso</familyName> <givenNames>WWY</givenNames></author>,
<author><familyName>Jalal</familyName> <givenNames>K</givenNames></author>,
<author><familyName>Lee</familyName> <givenNames>SL</givenNames></author>,
<author><familyName>Chau</familyName> <givenNames>CSK</givenNames></author>,
<author><familyName>Chung</familyName> <givenNames>BHY</givenNames></author>.
<pubYear year="2013">2013</pubYear>.
<articleTitle>Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature</articleTitle>.
<journalTitle>Am J Med Genet Part A</journalTitle><vol>161A</vol>:<pageFirst>1309</pageFirst>–<pageLast>1318</pageLast>.
</citation></selfCitationGroup><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMGA35909.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature<link href="#ajmga35909-note-0003"></link></title><title type="shortAuthors">LIU ET AL.</title><title type="tocForm">Expanded Prader–Willi Syndrome Due to Chromosome 15q11.2–14 Deletion: Report and a Review of Literature</title></titleGroup><creators><creator xml:id="ajmga35909-cr-0001" creatorRole="author" affiliationRef="#ajmga35909-aff-0001"><personName><givenNames>Anthony P.Y.</givenNames> <familyName>Liu</familyName></personName></creator><creator xml:id="ajmga35909-cr-0002" creatorRole="author" affiliationRef="#ajmga35909-aff-0002"><personName><givenNames>Wing Fai</givenNames> <familyName>Tang</familyName></personName></creator><creator xml:id="ajmga35909-cr-0003" creatorRole="author" affiliationRef="#ajmga35909-aff-0002 #ajmga35909-aff-0003"><personName><givenNames>Elizabeth T.</givenNames> <familyName>Lau</familyName></personName></creator><creator xml:id="ajmga35909-cr-0004" creatorRole="author" affiliationRef="#ajmga35909-aff-0002 #ajmga35909-aff-0003"><personName><givenNames>Kelvin Y.K.</givenNames> <familyName>Chan</familyName></personName></creator><creator xml:id="ajmga35909-cr-0005" creatorRole="author" affiliationRef="#ajmga35909-aff-0002 #ajmga35909-aff-0003"><personName><givenNames>Anita S.Y.</givenNames> <familyName>Kan</familyName></personName></creator><creator xml:id="ajmga35909-cr-0006" creatorRole="author" affiliationRef="#ajmga35909-aff-0001"><personName><givenNames>Kar Yin</givenNames> <familyName>Wong</familyName></personName></creator><creator xml:id="ajmga35909-cr-0007" creatorRole="author" affiliationRef="#ajmga35909-aff-0001"><personName><givenNames>Winnie W.Y.</givenNames> <familyName>Tso</familyName></personName></creator><creator xml:id="ajmga35909-cr-0008" creatorRole="author" affiliationRef="#ajmga35909-aff-0001"><personName><givenNames>Khair</givenNames> <familyName>Jalal</familyName></personName></creator><creator xml:id="ajmga35909-cr-0009" creatorRole="author" affiliationRef="#ajmga35909-aff-0001"><personName><givenNames>So Lun</givenNames> <familyName>Lee</familyName></personName></creator><creator xml:id="ajmga35909-cr-0010" creatorRole="author" affiliationRef="#ajmga35909-aff-0001"><personName><givenNames>Christy S.K.</givenNames> <familyName>Chau</familyName></personName></creator><creator xml:id="ajmga35909-cr-0011" creatorRole="author" affiliationRef="#ajmga35909-aff-0001 #ajmga35909-aff-0002" corresponding="yes"><personName><givenNames>Brian H.Y.</givenNames> <familyName>Chung</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="ajmga35909-aff-0001" countryCode="CN"><orgDiv>Department of Paediatrics and Adolescent Medicine</orgDiv><orgName>Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong</orgName><address><city>Hong Kong Special Administrative Region</city><country>China</country></address></affiliation><affiliation xml:id="ajmga35909-aff-0002" countryCode="CN"><orgDiv>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine</orgDiv><orgName>The University of Hong Kong</orgName><address><city>Hong Kong Special Administrative Region</city><country>China</country></address></affiliation><affiliation xml:id="ajmga35909-aff-0003" countryCode="CN"><orgDiv>Department of Obstetrics and Gynaecology</orgDiv><orgName>Queen Mary Hospital</orgName><address><city>Hong Kong Special Administrative Region</city><country>China</country></address></affiliation></affiliationGroup><keywordGroup type="author" xml:lang="en"><keyword xml:id="ajmga35909-kwd-0001">Prader–Willi syndrome</keyword><keyword xml:id="ajmga35909-kwd-0002">chromosome15q13.3 deletion</keyword><keyword xml:id="ajmga35909-kwd-0003">array comparative genomic hybridization</keyword><keyword xml:id="ajmga35909-kwd-0004">pulmonary interstitial glycogenosis</keyword></keywordGroup><fundingInfo><fundingAgency>SK Yee Medical Research Fund</fundingAgency></fundingInfo><fundingInfo><fundingAgency>Wellcome Trust</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="ajmga35909-sec-0001"><p>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.</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="ajmga35909-note-0003">All authors have no conflict of interest to declare.</note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature</title></titleInfo><name type="personal"><namePart type="given">Anthony P.Y.</namePart><namePart type="family">Liu</namePart><affiliation>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, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Wing Fai</namePart><namePart type="family">Tang</namePart><affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elizabeth T.</namePart><namePart type="family">Lau</namePart><affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</affiliation><affiliation>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kelvin Y.K.</namePart><namePart type="family">Chan</namePart><affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</affiliation><affiliation>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anita S.Y.</namePart><namePart type="family">Kan</namePart><affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</affiliation><affiliation>Department of Obstetrics and Gynaecology, Queen Mary Hospital, Hong Kong Special Administrative Region, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kar Yin</namePart><namePart type="family">Wong</namePart><affiliation>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, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Winnie W.Y.</namePart><namePart type="family">Tso</namePart><affiliation>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, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Khair</namePart><namePart type="family">Jalal</namePart><affiliation>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, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">So Lun</namePart><namePart type="family">Lee</namePart><affiliation>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, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christy S.K.</namePart><namePart type="family">Chau</namePart><affiliation>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, China</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Brian H.Y.</namePart><namePart type="family">Chung</namePart><affiliation>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, China</affiliation><affiliation>Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China</affiliation><affiliation>Correspondence to:Brian H.Y. Chung, 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, China.E‐mail:</affiliation><affiliation>E-mail: bhychung@hku.hk</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><dateIssued encoding="w3cdtf">2013-06</dateIssued><dateCreated encoding="w3cdtf">2013-02-08</dateCreated><dateCaptured encoding="w3cdtf">2012-09-06</dateCaptured><dateValid encoding="w3cdtf">2013-01-25</dateValid><edition>Liu APY, Tang WF, Lau ET, Chan KYK, Kan ASY, Wong KY, Tso WWY, Jalal K, Lee SL, Chau CSK, Chung BHY. 2013. Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature. Am J Med Genet Part A161A:1309–1318.</edition><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract 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.</abstract><note type="content">*All authors have no conflict of interest to declare.</note><note type="funding">SK Yee Medical Research Fund</note><note type="funding">Wellcome Trust</note><subject lang="en"><genre>keywords</genre><topic>Prader–Willi syndrome</topic><topic>chromosome15q13.3 deletion</topic><topic>array comparative genomic hybridization</topic><topic>pulmonary interstitial glycogenosis</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="journal">journal</genre><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2013</date><detail type="volume"><caption>vol.</caption><number>161</number></detail><detail type="issue"><caption>no.</caption><number>6</number></detail><extent unit="pages"><start>1309</start><end>1318</end><total>10</total></extent></part></relatedItem><identifier type="istex">41F578E8351B427175839A79326F41215A9B9267</identifier><identifier type="DOI">10.1002/ajmg.a.35909</identifier><identifier type="ArticleID">AJMGA35909</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2013 Wiley Periodicals, Inc.Copyright © 2013 Wiley Periodicals, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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