{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T19:11:10Z","timestamp":1790104270272,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T00:00:00Z","timestamp":1733961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Maternal uniparental disomy of chromosome 14, upd(14)mat, leads to Temple syndrome (TS), an imprinting disorder characterized by pre\u2010 and postnatal growth retardation, hypotonia, motor delay, joint laxity, and precocious puberty. The occurrence of upd(14)mat is rare, and it may, in even rarer cases, co\u2010occur with trisomy 14 mosaicism. To date, only 11 live\u2010born cases have been reported in the literature. We present a newborn girl with severe hypotonia, global developmental delay, feeding difficulties, dysmorphic features, and cardiac malformations. Using trio whole genome sequencing (WGS) no causative sequence or structural variants were detected. As a chromosomal disorder was suspected the data was further analyzed with a pipeline including analysis of UPD and low\u2010level mosaicism, which revealed upd(14)mat and low level trisomy 14 mosaicism. This study underscores the significance of advanced genetic testing techniques, thorough data interpretation, and expert clinical evaluation in diagnosing rare disorders with complex molecular mechanisms.<\/jats:p>","DOI":"10.1111\/cge.14676","type":"journal-article","created":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T20:38:18Z","timestamp":1734035898000},"page":"559-563","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Concomitant Upd(14)mat and Trisomy 14 Mosaicism in a Newborn Detected by Whole Genome Sequencing"],"prefix":"10.1111","volume":"107","author":[{"given":"Tilde","family":"Olsen","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jakob","family":"Ek","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"Bak","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iben","family":"Bache","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stense","family":"Farholt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Center for Rare Diseases Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-5802","authenticated-orcid":false,"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Medicine and Health Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-023-00443-4"},{"issue":"3","key":"e_1_2_7_3_1","first-page":"1","article-title":"Uniparental Disomy and Imprinting Disorders","volume":"2","author":"Eggermann T.","year":"2018","journal-title":"Journal of Organizational Behavior Genetis"},{"issue":"6","key":"e_1_2_7_4_1","first-page":"1145","article-title":"Maternal Uniparental Disomy for Human Chromosome 14, Due to Loss of a Chromosome 14 From Somatic Cells With t(13;14) Trisomy 14","volume":"52","author":"Antonarakis S. E.","year":"1993","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.501"},{"key":"e_1_2_7_6_1","article-title":"Maternal UPD(14) in the Patient With a Normal Karyotype: Clinical Report and a Systematic Search for Cases in Samples Sent for Testing for Prader\u2010Willi Syndrome","volume":"127","author":"Cox H.","year":"2004","journal-title":"American Journal of Medical Genetics"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104199"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10511"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62128"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000140"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12841"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-017-0381-z"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000489446"},{"issue":"1","key":"e_1_2_7_14_1","article-title":"Maternal Uniparental Disomy 14 and Mosaic Trisomy 14 in a Chinese Boy With Moderate to Severe Intellectual Disability. Molecular","volume":"9","author":"Zhang S.","year":"2016","journal-title":"Cytogenetics"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.7.525"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11216289"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14676","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,14]],"date-time":"2025-10-14T01:27:04Z","timestamp":1760405224000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14676"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,12]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1111\/cge.14676"],"URL":"https:\/\/doi.org\/10.1111\/cge.14676","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14676\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14676\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14676\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14676\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14676\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,12]]},"assertion":[{"value":"2024-11-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}