{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:37Z","timestamp":1790416537002,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T00:00:00Z","timestamp":1280793600000},"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":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with atypical Silver\u2013Russell phenotype comprising severe growth retardation, unusual facies, bilateral Duane anomaly and infantile hypercalcemia caused by maternal uniparental iso\/heterodisomy (mUPD) of chromosome 7. The development of myoclonus in this patient lends further support to the hypothesis that abnormal imprinting of the <jats:italic>SGCE<\/jats:italic> gene is responsible for some cases of myoclonus\u2013dystonia syndrome. This case highlights the utility of SNP microarray technology as an accessible tool for the diagnosis of mUPD7 in atypical cases. We propose that depending on the balance of iso\u2010 and heterodisomic segments in a particular patient, mUPD7 may result in a range of phenotypes not confined to classic Silver\u2013Russell syndrome. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33590","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T22:18:44Z","timestamp":1280873924000},"page":"2342-2345","source":"Crossref","is-referenced-by-count":15,"title":["Atypical Silver\u2013Russell phenotype resulting from maternal uniparental disomy of chromosome 7"],"prefix":"10.1002","volume":"152A","author":[{"given":"Zornitza","family":"Stark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique M.","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien L.","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trent","family":"Burgess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053017"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_5_4_1","first-page":"325","article-title":"Inherited myoclonus\u2013dystonia syndrome","volume":"78","author":"Gasser T","year":"1998","journal-title":"Adv Neurol"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1629"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.65.10.1380"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.3.441"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00436-7"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00008373"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050064"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.71.6.490"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/344531"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0354"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000134044"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.1.6"},{"key":"e_1_2_5_16_1","first-page":"837","article-title":"The spectrum of Silver\u2013Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price SM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_17_1","first-page":"1040","article-title":"A syndrome of intra\u2010uterine dwarfism recognizable at birth with cranio\u2010facial dysostosis, disproportionately short arms, and other anomalies (5 examples)","volume":"47","author":"Russell A","year":"1954","journal-title":"Proc R Soc Med"},{"key":"e_1_2_5_18_1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","article-title":"Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins","volume":"12","author":"Silver HK","year":"1953","journal-title":"Pediatrics"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1636"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31167"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng709"}],"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.33590","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33590","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:01:19Z","timestamp":1697608879000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,3]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/ajmg.a.33590"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33590","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,3]]}}}