{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T13:00:21Z","timestamp":1788872421460,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,6,9]],"date-time":"2003-06-09T00:00:00Z","timestamp":1055116800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Canadian Institutes of Health (to W.P.R.)","award":["FRN-38051"],"award-info":[{"award-number":["FRN-38051"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Russell\u2013Silver syndrome (RSS) is a disorder characterized by pre\u2010 and post\u2010natal growth deficiency, triangular facies, relative macrocephaly, and body asymmetry. Maternal uniparental disomy for chromosome 7 has been found in approximately 10% of RSS cases, while the cause in the remaining cases is unknown. Although most cases of RSS are sporadic, at least 25 families have been reported with familial RSS and inheritance patterns of RSS consistent with an X\u2010linked dominant mutation. Thus, we hypothesized that skewed X\u2010chromosome inactivation (XCI) could be increased in some females with RSS as a consequence of a tendency to have the mutant allele on the predominantly active chromosome. Alternatively, unaffected mothers of children with RSS may tend to be skewed due to preferential inactivation of the mutant allele. In support of this last hypothesis, a significant increase in extremely skewed XCI (&gt;95%) was found in mothers of children with RSS (4 of 21, 19%) compared to controls (2 of 101, 2%) (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.008). However, an increase in skewed XCI was also observed in female patients who had unexplained short stature but did not fulfill the criteria for RSS (3 of 17, 18%) (\n                    <jats:italic>P<\/jats:italic>\n                    \u2009=\u20090.02), but not in those diagnosed as RSS (0 of 7, n.s.). Different mechanisms may underlie the increase in skewing in each group, possibly being due to different X\u2010linked mutations or growth restriction during very early in utero development. \u00a9 2003 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.20317","type":"journal-article","created":{"date-parts":[[2003,11,4]],"date-time":"2003-11-04T04:00:26Z","timestamp":1067918426000},"page":"231-235","source":"Crossref","is-referenced-by-count":6,"title":["X chromosome inactivation patterns in Russell\u2013Silver syndrome patients and their mothers"],"prefix":"10.1002","volume":"123A","author":[{"given":"Christy L.","family":"Beever","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria 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