{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T09:55:40Z","timestamp":1790416540269,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,1,20]],"date-time":"2013-01-20T00:00:00Z","timestamp":1358640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,10]]},"abstract":"Myoclonus\u2010dystonia (M\u2010D) is a movement disorder that is often associated with mutations in epsilon\u2010sarcoglycan (SGCE<\/jats:styled-content><\/jats:italic>), a maternally imprinted gene at 7q21.3. We report a 24\u2010year\u2010old male with short stature (<5th percentile) and a movement disorder clinically consistent with M\u2010D. Single nucleotide polymorphism (SNP<\/jats:styled-content>) array did not identify significant copy number changes, but revealed three long continuous stretches of homozygosity on chromosome 7 suggestive of uniparental disomy. Parental SNP<\/jats:styled-content> arrays confirmed that the proband had maternal uniparental disomy of chromosome 7 (mUPD7<\/jats:styled-content>) with regions of heterodisomy and isodisomy. mUPD7<\/jats:styled-content> is the cause of approximately 5\u201310% of Silver\u2013Russell syndrome (SRS<\/jats:styled-content>), a disorder characterized by prenatal and postnatal growth retardation. Although SRS<\/jats:styled-content> was not suspected in our patient, these findings explain his short stature. SGCE<\/jats:styled-content><\/jats:italic> methylation testing showed loss of the unmethylated paternal allele. Our findings provide a unifying diagnosis for his short stature and M\u2010D and help to optimize his medication regimen. In conclusion, we show that M\u2010D is a clinical feature that may be associated with SRS<\/jats:styled-content> due to mUPD7<\/jats:styled-content>. Individuals with mUPD7<\/jats:styled-content> should be monitored for the development of movement disorders. Conversely, individuals with M\u2010D and short stature should be evaluated for SRS<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12075","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T22:02:39Z","timestamp":1355436159000},"page":"368-372","source":"Crossref","is-referenced-by-count":19,"title":["Myoclonus\u2010dystonia and Silver\u2013Russell syndrome resulting from maternal uniparental disomy of chromosome 7"],"prefix":"10.1111","volume":"84","author":[{"given":"MB","family":"Sheridan","sequence":"first","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Bytyci Telegrafi","sequence":"additional","affiliation":[{"name":"McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V","family":"Stinnett","sequence":"additional","affiliation":[{"name":"Cytogenetics and Microarray Laboratory Kennedy Krieger Institute Baltimore MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CC","family":"Umeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Mari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TM","family":"Dawson","sequence":"additional","affiliation":[{"name":"Neuroregeneration Program, Institute for Cell Engineering and the Solomon H. 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