{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,22]],"date-time":"2024-01-22T12:00:57Z","timestamp":1705924857637},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T00:00:00Z","timestamp":1367280000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23\u2009Mb deletion within 15q11.2\u2013q14 and a 25.12\u2009kb deletion in 5pter. The 15q11.2\u2013q14 deletion encompassed the 15q11.2\u2013q13 Prader\u2013Willi 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. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35909","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T15:59:41Z","timestamp":1367337581000},"page":"1309-1318","source":"Crossref","is-referenced-by-count":9,"title":["Expanded Prader\u2013Willi syndrome due to chromosome 15q11.2\u201314 deletion: Report and a review of literature"],"prefix":"10.1002","volume":"161","author":[{"given":"Anthony P.Y.","family":"Liu","sequence":"first","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wing Fai","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth T.","family":"Lau","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region China"},{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Special Administrative Region China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelvin Y.K.","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region China"},{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Special Administrative Region China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita S.Y.","family":"Kan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Li Ka Shing Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region China"},{"name":"Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong Special Administrative Region China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kar Yin","family":"Wong","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winnie W.Y.","family":"Tso","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khair","family":"Jalal","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"So Lun","family":"Lee","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christy S.K.","family":"Chau","sequence":"additional","affiliation":[{"name":"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 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