{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T15:56:43Z","timestamp":1792425403882,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T00:00:00Z","timestamp":1511222400000},"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":[[2018,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>The two imprinting syndromes Temple syndrome (TS14) and Prader\u2013Willi syndrome (PWS) share many features in infancy and childhood. TS14 is an important, yet often neglected, differential diagnosis to PWS. We wanted to assess the frequency of TS14 among patients tested for PWS. In all samples submitted to our lab for genetic PWS testing during 2014 and 2015, we consecutively conducted additional analyses for TS14. A total of 143 samples were included. The most frequent indications for testing were developmental delay, overweight, and hypotonia. For TS14 testing, we performed a methylation\u2010sensitive MLPA\u2010kit detecting deletions and methylation aberrations in chromosomal region 14q32. TS14 was confirmed in 3 out of 143 patients (2.1%). In comparison, PWS was also confirmed in three patients. Brief clinical descriptions of the TS14 patients are presented. Temple syndrome is presumably underdiagnosed, and should be considered when testing children for PWS.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38533","type":"journal-article","created":{"date-parts":[[2017,11,21]],"date-time":"2017-11-21T05:43:12Z","timestamp":1511242992000},"page":"175-180","source":"Crossref","is-referenced-by-count":22,"title":["Temple syndrome as a differential diagnosis to Prader\u2013Willi syndrome: Identifying three new patients"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2778-9307","authenticated-orcid":false,"given":"Asgeir","family":"Lande","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"},{"name":"Faculty of Medicine University of Oslo Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Kroken","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Rabben","sequence":"additional","affiliation":[{"name":"Frambu Resource Center for Rare Disorders Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Retterst\u00f8l","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-015-0312-9"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<76::AID-AJMG16>3.0.CO;2-F"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.91"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20611"},{"issue":"4","key":"e_1_2_8_6_1","doi-asserted-by":"crossref","first-page":"e46","DOI":"10.1136\/jmg.40.4.e46","article-title":"Exclusion of maternal uniparental disomy of chromosome 14 in patients referred for Prader\u2010Willi syndrome using a multiplex methylation polymerase chain reaction assay","volume":"40","author":"Dietz L. G.","year":"2003","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.09.004"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.06.045"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102396"},{"key":"e_1_2_8_10_1","article-title":"Temple syndrome: Comprehensive molecular and clinical findings in 32 Japanese patients","author":"Kagami M.","year":"2017","journal-title":"Genetics in Medicine"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31414"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37346"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12841"},{"key":"e_1_2_8_14_1","first-page":"A8240","article-title":"Maternal uniparental disomy 14; differential diagnosis with Prader\u2010Willi syndrome","volume":"159","author":"Tamminga S.","year":"2015","journal-title":"Nederlands Tijdschrift Voor Geneeskunde"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.8.511"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38533","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T10:46:39Z","timestamp":1695984399000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,21]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/ajmg.a.38533"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38533","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,21]]}}}