{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:06:33Z","timestamp":1788908793070,"version":"build-2803163510"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      15q11.2\u2013q13 duplication syndrome (Dup15q; OMIM #608636) is a rare neurodevelopmental disorder. While interstitial duplications (copy number = 3) are relatively well characterized, contiguous rearrangements comprising both tetrasomic (copy number = 4) and adjacent trisomic (copy number = 3) segments are rare. We report a Chinese girl with a\n                      <jats:italic>de novo<\/jats:italic>\n                      contiguous 15q11.1\u2013q13.3 duplication, whose underlying genetic diagnosis was initially delayed because her early neurodevelopmental abnormalities were partly attributed to prematurity.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      The patient was born at 35+2 weeks of gestation and presented with global developmental delay, severe autism spectrum disorder (CARS: 44), and profound cognitive and language impairment (GQ 30, GMQ 57\u00a0at 2 years 4 months). Brain MRI demonstrated delayed myelination, and magnetic resonance spectroscopy showed metabolic abnormalities in the left frontal lobe. Video-electroencephalography at 3 years of age revealed sleep-activated frontocentral epileptiform discharges without clinical seizures. Trio whole-genome sequencing with copy number variation analysis identified a\n                      <jats:italic>de novo<\/jats:italic>\n                      contiguous duplication consisting of a \u223c10.34\u00a0Mb tetrasomic segment (15q11.1\u2013q13.2; CN = 4) and an adjacent \u223c2.40\u00a0Mb trisomic segment (15q13.2\u2013q13.3; CN = 3). Despite long-term rehabilitation, the patient remained nonverbal and exhibited persistent severe neurodevelopmental impairment.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case expands the genomic spectrum of complex proximal 15q rearrangements and highlights the value of high-resolution genomic testing for resolving complex neurodevelopmental disorders. It also emphasizes that severe genetic etiologies may be overlooked when developmental abnormalities are initially attributed to prematurity. These findings support early comprehensive genomic evaluation in children with profound developmental delay, autism spectrum disorder, or persistent developmental impairment despite conventional rehabilitation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1953023","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T22:10:21Z","timestamp":1788905421000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A rare de novo contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review"],"prefix":"10.3389","volume":"17","author":[{"given":"Xinyu","family":"Zhou","sequence":"first","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HongYan","family":"Xie","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoyan","family":"Yu","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangfan","family":"Qi","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Jiang","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangzhu","family":"Lin","sequence":"additional","affiliation":[{"name":"Changchun University of Chinese Medicine","place":["Changchun, China"]},{"name":"Diagnosis and Treatment Center for Children, The Affiliated Hospital of Changchun University of Chinese Medicine","place":["Changchun, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.ejmg.2013.10.008","article-title":"Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases","volume":"57","author":"Al Ageeli","year":"2014","journal-title":"Eur. 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