{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:34:22Z","timestamp":1791196462977,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,8,20]],"date-time":"2010-08-20T00:00:00Z","timestamp":1282262400000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2010,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In comparison to Prader\u2013Willi or Angelman syndrome, Russell\u2013Silver syndrome (RSS) is a relatively \u201cyoung\u201d imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry, and further less constant characteristic features. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical RSS features. Up to 5% of patients carry a maternal uniparental disomy of chromosome 7 (UPD(7)mat), at least 44% show hypomethylation in the chromosome 11p15 imprinting center 1 (IC). In 1\u20132% of RSS patients, (sub)microscopic chromosomal aberrations can be observed. The diagnostic workup should therefore include methylation\/genomic testing for chromosome 11p15, UPD(7)mat analysis and molecular karyotyping. The recurrence risk is generally low in RSS but it can be strongly increased in cases of familial epimutations or a chromosomal rearrangement. Interestingly, in \u223c7% of cases with chromosome 11p15 hypomethylation, hypomethylation of additional imprinted loci can be detected. Clinically, patients with hypomethylation at multiple loci do not differ from those with isolated 11p15 hypomethylation whereas the UPD(7)mat patients generally show a milder phenotype. Nevertheless, (epi)genotype\u2013phenotype correlations are still evolving. Furthermore, the pathophysiological mechanisms resulting in the RSS phenotype still remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30274","type":"journal-article","created":{"date-parts":[[2010,9,4]],"date-time":"2010-09-04T04:26:13Z","timestamp":1283574373000},"page":"355-364","source":"Crossref","is-referenced-by-count":96,"title":["Russell\u2013Silver syndrome"],"prefix":"10.1002","volume":"154C","author":[{"given":"Thomas","family":"Eggermann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,8,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053017"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/den310"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp435"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580202"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061820"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2002.15.8.1167"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-1127"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1897"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/502981"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.233"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.77"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.08.006"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069427"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1805"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.057059"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.2350\/09-07-0686-CR.1"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100605"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350220"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028936"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01057.x"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3228"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0787-2"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.14310\/horm.2002.1111040"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1629"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2009.0018"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33065"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-006-9096-3"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.177"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.06.001"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.4.583"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.187"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1089\/10906570152742335"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/302717"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.4.e11"},{"key":"e_1_2_10_36_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-0354"},{"key":"e_1_2_10_37_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2004.tb00495.x"},{"key":"e_1_2_10_38_1","first-page":"298","volume-title":"Genetic and Malformation Syndromes in Clinical Medicine","author":"Nyhan WL","year":"1976"},{"key":"e_1_2_10_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30379"},{"key":"e_1_2_10_40_1","first-page":"457","article-title":"An analysis of the distribution of hetero\u2010 and isodisomic regions of chromosome 7 in five mUPD7 Silver\u2013Russell syndrome probands","volume":"36","author":"Preece MA","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_10_41_1","first-page":"183","volume-title":"The clinical Delineation of Birth Defects. 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