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Accumulating evidence has suggested that <jats:italic>MECP2<\/jats:italic> is the causative gene of <jats:italic>MECP2<\/jats:italic> duplication syndrome. We report a case of a 17-year-old boy with a 1.2\u00a0Mb duplication distal to <jats:italic>MECP2<\/jats:italic> on chromosome Xq28. Although this region does not contain <jats:italic>MECP2<\/jats:italic>, the clinical features and course of the boy are remarkably similar to those observed in <jats:italic>MECP2<\/jats:italic> duplication syndrome. Recently, case reports have described duplication in the region distal to, and not containing, <jats:italic>MECP2<\/jats:italic>. These regions have been classified as the <jats:italic>K\/L<\/jats:italic>-mediated Xq28 duplication region and <jats:italic>int22h1\/int22h2<\/jats:italic>-mediated Xq28 duplication region.<\/jats:p>\n                <jats:p>The case reports also described signs similar to those of <jats:italic>MECP2<\/jats:italic> duplication syndrome. To the best of our knowledge, ours is the first case to include these two regions.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The boy presented with a mild to moderate regressive intellectual disability and progressive neurological disorder. He developed epilepsy at the age of 6\u00a0years and underwent a bilateral equinus foot surgery at 14\u00a0years of age because of the increasing spasticity in lower extremities since the age of 11. Intracranial findings showed hypoplasia of the corpus callosum, cerebellum, and brain stem; linear hyperintensity in the deep white matter; and decreased white matter capacity. During his childhood, he suffered from recurrent infection. However, genital problems, skin abnormalities and gastrointestinal manifestations (gastroesophageal reflux) were not observed.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Cases in which duplication was observed in the region of Xq28 that does not include <jats:italic>MECP2<\/jats:italic> also showed symptoms similar to those of <jats:italic>MECP2<\/jats:italic> duplication syndrome. We compared four pathologies: <jats:italic>MECP2<\/jats:italic> duplication syndrome with minimal regions, duplication within the two distal regions without <jats:italic>MECP2<\/jats:italic>, and our case including both regions. Our results suggest that <jats:italic>MECP2<\/jats:italic> alone may not explain all symptoms of duplication in the distal part of Xq28.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-023-01465-3","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T10:18:38Z","timestamp":1678097918000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome"],"prefix":"10.1186","volume":"16","author":[{"given":"Keiko","family":"Akahoshi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-ichi","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"1465_CR1","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.1126\/science.1153252","volume":"320","author":"M Chahrour","year":"2008","unstructured":"Chahrour M, Jung SY, Shaw C, Zhou X, Wong ST, Qin J, et al. 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Written informed consent was obtained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to participate was obtained from both parents of the patient. The study was conducted in accordance with the Declaration of Helsinki. Written informed consent for publication of identifying images or other personal or clinical details was obtained from both parents of the patient. We have obtained written consent for (1) genetic analysis using patient specimens and (2) publication of patient photographs.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors report no competing interest in this work.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"43"}}