{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:52:27Z","timestamp":1792075947231,"version":"4.4.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T00:00:00Z","timestamp":1506038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1513A and B"],"award-info":[{"award-number":["01GM1513A and B"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd(6)mat, a literature search was conducted and genetic and clinical data were ascertained.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Comparison of isodisomic regions between the new upd(6)mat cases and those from four reports did not reveal any common isodisomic region. Among the patients with available cytogenetic data, five had a normal karyotype in lymphocytes, whereas a trisomy 6 (mosaicism) was detected prenatally in four cases. A common clinical picture was not obvious in upd(6)mat, but intrauterine growth restriction (<jats:styled-content style=\"fixed-case\">IUGR<\/jats:styled-content>) and preterm delivery were frequent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A common upd(6)mat phenotype is not obvious, but placental dysfunction due to trisomy 6 mosaicism probably contributes to <jats:styled-content style=\"fixed-case\">IUGR<\/jats:styled-content> and preterm delivery. In fact, other clinical features observed in upd(6)mat patients might be caused by homozygosity of recessive mutations or by an undetected trisomy 6 cell line. Upd(6)mat itself is not associated with clinical features, and can rather be regarded as a biomarker. In case upd(6)mat is detected, the cause for the phenotype is identified indirectly, but the <jats:styled-content style=\"fixed-case\">UPD<\/jats:styled-content> is not the basic cause.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.324","type":"journal-article","created":{"date-parts":[[2017,9,23]],"date-time":"2017-09-23T04:09:04Z","timestamp":1506139744000},"page":"668-677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The maternal uniparental disomy of chromosome 6\u00a0(upd(6)mat) \u201cphenotype\u201d: result of placental trisomy\u00a06\u00a0mosaicism?"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"first","affiliation":[{"name":"Medical Faculty Institute of Human Genetics RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Oehl\u2010Jaschkowitz","sequence":"additional","affiliation":[{"name":"Praxis f\u00fcr Humangenetik Homburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Severin","family":"Dicks","sequence":"additional","affiliation":[{"name":"Medical Faculty Institute of Human Genetics RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Thomas","sequence":"additional","affiliation":[{"name":"Klinikum Mutterhaus der Borrom\u00e4erinnen Trier Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Kanber","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beate","family":"Albrecht","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Begemann","sequence":"additional","affiliation":[{"name":"Medical Faculty Institute of Human Genetics RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[{"name":"Medical Faculty Institute of Human Genetics RWTH Aachen University Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasmin","family":"Beygo","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Buiting","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University of Essen Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.19719"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100967"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0198-8859(95)00148-4"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0076953"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31129"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-014-1141-6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.4.589"},{"key":"e_1_2_7_9_1","volume-title":"Chromosome abnormalities and genetic counseling","author":"Gardner J. 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