{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T19:39:31Z","timestamp":1788377971494,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,6,26]],"date-time":"2013-06-26T00:00:00Z","timestamp":1372204800000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Here we describe three subjects with mosaic genome\u2010wide paternal uniparental isodisomy (GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and hyperinsulinism (HI). Due to the severity of findings and the presence of additional features, SNP array testing was performed, which demonstrated mosaic GWpUPD. Comparing these individuals to 10 other live\u2010born subjects reported in the literature, the predominant phenotype is that of pUPD11 and notable for a very high incidence of tumor development. Our subjects developed non\u2010metastatic tumors of the adrenal gland, kidney, and\/or liver. All three subjects had pancreatic hyperplasia resulting in HI. Notably, our subjects to date display minimal features of other diseases associated with paternal UPD loci. Both children who survived the neonatal period have displayed near\u2010normal cognitive development, likely due to a favorable tissue distribution of the mosaicism. To understand the range of UPD mosaicism levels, we studied multiple tissues using SNP array analysis and detected levels of 5\u201395%, roughly correlating with the extent of tissue involvement. Given the rapidity of tumor growth and the difficulty distinguishing malignant and benign tumors in these GWpUPD subjects, we have utilized increased frequency of ultrasound (US) and alpha\u2010fetoprotein (AFP) screening in the first years of life. Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36045","type":"journal-article","created":{"date-parts":[[2013,6,26]],"date-time":"2013-06-26T18:25:59Z","timestamp":1372271159000},"page":"1929-1939","source":"Crossref","is-referenced-by-count":70,"title":["Clinical features of three girls with mosaic genome\u2010wide paternal uniparental isodisomy"],"prefix":"10.1002","volume":"161","author":[{"given":"Jennifer M.","family":"Kalish","sequence":"first","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Department of Cell and Developmental Biology Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura K.","family":"Conlin","sequence":"additional","affiliation":[{"name":"The Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tricia R.","family":"Bhatti","sequence":"additional","affiliation":[{"name":"The Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Department of Pediatrics Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly A.","family":"Dubbs","sequence":"additional","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Catherine","family":"Harris","sequence":"additional","affiliation":[{"name":"The Division of Neonatalogy The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kosuke","family":"Izumi","sequence":"additional","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sogol","family":"Mostoufi\u2010Moab","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"},{"name":"The Division of Endocrinology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Surabhi","family":"Mulchandani","sequence":"additional","affiliation":[{"name":"The Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulagna","family":"Saitta","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics Medical Genetics Institute Cedars\u2010Sinai Medical Center, Geffen School of Medicine at UCLA Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa J.","family":"States","sequence":"additional","affiliation":[{"name":"The Department of Radiology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel T.","family":"Swarr","sequence":"additional","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Division of Neonatalogy The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alisha B.","family":"Wilkens","sequence":"additional","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Zelley","sequence":"additional","affiliation":[{"name":"The Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa S.","family":"Bartolomei","sequence":"additional","affiliation":[{"name":"The Department of Cell and Developmental Biology Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim E.","family":"Nichols","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"},{"name":"The Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew A.","family":"Palladino","sequence":"additional","affiliation":[{"name":"The Department of Pediatrics Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"},{"name":"The Division of Endocrinology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy B.","family":"Spinner","sequence":"additional","affiliation":[{"name":"The Department of Pathology and Laboratory Medicine The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[{"name":"The Division of Genetics The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"The Department of Pediatrics Perelman School of Medicine, The University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp435"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.4.362"},{"key":"e_1_2_5_4_1","unstructured":"BrykeC GarberA IsraelJ.2004. Evolution of a complex phenotype in a unique patient with a paternal uniparental disomy for every chromosome cell line and a normal biparental inheritance cell line. Abstract 823. Presented at the 54th Annual Meeting of The American Society of Human Genetics Toronto Canada."},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31819436cf"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq003"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201463"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-010-1853-2"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.106217"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034116"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.259"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00209482"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.09.004"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35651"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35831"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.2350\/09-03-0628-CR.1"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058016"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31999"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2011.04.001"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00689.x"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31896"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.2350\/07-12-0401.1"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.081919"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31323"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.2006.00908.x"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.106"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32172"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.142"}],"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.36045","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T22:59:23Z","timestamp":1696633163000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,26]]},"references-count":28,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1002\/ajmg.a.36045"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36045","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,26]]}}}