{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:32:08Z","timestamp":1777804328900,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T00:00:00Z","timestamp":1542758400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>To date, 13 patients with interstitial microduplications involving Xq25q26.2 have been reported. Here, we report 6 additional patients from 2 families with duplications involving Xq25q26.2. Family I carries a 5.3-Mb duplication involving 26 genes. This duplication was identified in 3 patients and was associated with microcephaly, growth failure, developmental delay, and dysmorphic features. Family II carries an overlapping 791-kb duplication that involves 3 genes. This duplication was identified in 3 patients and was associated with learning disability and speech delay. The size and gene content of published overlapping Xq25q26.2 duplications vary, making it difficult to define a critical region or establish a genotype-phenotype correlation. However, patients with overlapping duplications have been found to share common clinical features including microcephaly, growth failure, intellectual disability, learning difficulties, and dysmorphic features. The 2 families presented here provide additional insight into the phenotypic spectrum and clinical significance of duplications in this region.<\/jats:p>","DOI":"10.1177\/0883073818811454","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T03:58:01Z","timestamp":1542772681000},"page":"86-93","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature"],"prefix":"10.1177","volume":"34","author":[{"given":"John C.","family":"Herriges","sequence":"first","affiliation":[{"name":"Department of Pathology, University of Utah, Salt Lake City, UT, USA"},{"name":"ARUP Laboratories, Salt Lake City, UT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen M.","family":"Arch","sequence":"additional","affiliation":[{"name":"Genetics and Developmental Medicine, Dixie Regional Medical Center, St George, UT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pamela A.","family":"Burgio","sequence":"additional","affiliation":[{"name":"Pediatrics Medical Group, Renown Regional Medical Center, Reno, NV, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin E.","family":"Baldwin","sequence":"additional","affiliation":[{"name":"ARUP Laboratories, Salt Lake City, UT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle","family":"LaGrave","sequence":"additional","affiliation":[{"name":"ARUP Laboratories, Salt Lake City, UT, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen N.","family":"Lamb","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Utah, Salt Lake City, UT, USA"},{"name":"ARUP Laboratories, Salt Lake City, UT, 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