{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:32:32Z","timestamp":1790195552080,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,3,11]],"date-time":"2020-03-11T00:00:00Z","timestamp":1583884800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EG110\/15\u20101"],"award-info":[{"award-number":["EG110\/15\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Silver\u2010Russell syndrome (SRS) is an imprinting disorder characterized by prenatal and postnatal growth retardation, relative macrocephaly, feeding difficulties and body asymmetry. Recently, upd(20)mat has been identified in few patients with SRS\u2010like features, suggestive of a new imprinting disorder characterized by prenatal and postnatal growth failure. Here, we describe two male patients with upd(20) and feeding difficulties, prenatal and postnatal growth retardation and normal cognitive development. During pregnancy, confined placental mosaicism for trisomy 20 was detected in one of the patients but was not investigated further until identification of upd(20)mat in the neonatal period. To evaluate whether upd(20)mat should be part of the first trier genetic diagnostic in patients with growth retardation, we screened a large cohort of patients (\n                    <jats:italic>n<\/jats:italic>\n                    = 673) referred to our laboratories for SRS\u2010testing without detecting any upd(20). Our results, along with the existing evidence, indicate that upd(20)mat is a very rare cause of growth retardation, but should be followed up when confined placental mosaicism for trisomy 20 mosaicism is observed during pregnancy.\n                  <\/jats:p>","DOI":"10.1111\/cge.13727","type":"journal-article","created":{"date-parts":[[2020,2,22]],"date-time":"2020-02-22T09:48:46Z","timestamp":1582364926000},"page":"902-907","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["upd(20)mat is a rare cause of the Silver\u2010Russell\u2010syndrome\u2010like phenotype: Two unrelated cases and screening of large cohorts"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3045-8990","authenticated-orcid":false,"given":"Tina D.","family":"Hjortsh\u00f8j","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet  Glostrup Denmark"},{"name":"Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna R.","family":"S\u00f8rensen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melodi","family":"Yusibova","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo M.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Copenhagen University Hospital Herlev and Gentofte  Herlev Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Balslev\u2010Harder","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital Rigshospitalet  Glostrup Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna M.","family":"van Hagen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abeltje M.","family":"Polstra","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Technical University of Aachen  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn J.J.","family":"Finken","sequence":"additional","affiliation":[{"name":"Emma Children's Hospital, Amsterdam UMC Vrije Universiteit Amsterdam, Pediatric Endocrinology  Amsterdam The Netherlands"}],"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, Kennedy Center, Copenhagen University Hospital Rigshospitalet  Glostrup Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen 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