{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T15:56:52Z","timestamp":1792425412759,"version":"4.5.0"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T00:00:00Z","timestamp":1416960000000},"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":[[2015,2]]},"abstract":"<jats:sec><jats:label\/><jats:p>Uniparental disomy (UPD) for imprinted chromosomes can cause abnormal phenotypes due to absent or overexpression of imprinted genes. UPD(14)pat causes a unique constellation of features including thoracic skeletal anomalies, polyhydramnios, placentomegaly, and limited survival; its hypothesized cause is overexpression of paternally expressed <jats:italic>RTL1<\/jats:italic>, due to absent regulatory effects of maternally expressed <jats:italic>RTL1as<\/jats:italic>. UPD(14)mat causes a milder condition with hypotonia, growth failure, and precocious puberty; its hypothesized cause is absence of paternally expressed <jats:italic>DLK1<\/jats:italic>. To more clearly establish how gains and losses of imprinted genes can cause disease, we report six individuals with copy number variations of the imprinted 14q32 region identified through clinical microarray\u2010based comparative genomic hybridization. Three individuals presented with UPD(14)mat\u2010like phenotypes (Temple syndrome) and had apparently de novo deletions spanning the imprinted region, including <jats:italic>DLK1<\/jats:italic>. One of these deletions was shown to be on the paternal chromosome. Two individuals with UPD(14)pat\u2010like phenotypes had 122\u2013154kb deletions on their maternal chromosomes that included <jats:italic>RTL1as<\/jats:italic> but not the differentially methylated regions that regulate imprinted gene expression, providing further support for <jats:italic>RTL1<\/jats:italic> overexpression as a cause for the UPD(14)pat phenotype. The sixth individual is tetrasomic for a 1.7Mb segment, including the imprinted region, and presents with intellectual disability and seizures but lacks significant phenotypic overlap with either UPD(14) syndrome. Therefore, the 14q32 imprinted region is dosage sensitive, with deletions of different critical regions causing UPD(14)mat\u2010 and UPD(14)pat\u2010like phenotypes, while copy gains are likely insufficient to recapitulate these phenotypes. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36866","type":"journal-article","created":{"date-parts":[[2014,11,26]],"date-time":"2014-11-26T18:13:01Z","timestamp":1417025581000},"page":"345-353","source":"Crossref","is-referenced-by-count":17,"title":["Clinical features associated with copy number variations of the 14q32 imprinted gene cluster"],"prefix":"10.1002","volume":"167","author":[{"given":"Jill A.","family":"Rosenfeld","sequence":"first","affiliation":[{"name":"Signature Genomic Laboratories PerkinElmer Inc. Spokane Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joyce E.","family":"Fox","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Steven and Alexandra Cohen Children's Medical Center of New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Descartes","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fallon","family":"Brewer","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Alabama at Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Stroud","sequence":"additional","affiliation":[{"name":"Division of Developmental Pediatrics University of Missouri Columbia Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome L.","family":"Gorski","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics University of Missouri School of Medicine Columbia Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila J.","family":"Upton","sequence":"additional","affiliation":[{"name":"Children's Hospital at Dartmouth Dartmouth\u2010Hitchcock Medical Center Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Moeschler","sequence":"additional","affiliation":[{"name":"Children's Hospital at Dartmouth Dartmouth\u2010Hitchcock Medical Center Lebanon New Hampshire"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berrin","family":"Monteleone","sequence":"additional","affiliation":[{"name":"Stony Brook University Medical Center Stony Brook New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Neill","sequence":"additional","affiliation":[{"name":"Signature Genomic Laboratories PerkinElmer Inc. 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