{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T16:39:37Z","timestamp":1786639177854,"version":"build-2736575974"},"reference-count":19,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder most often caused by terminal 22q13.3 deletions involving SHANK3. Although primarily associated with developmental delay, hypotonia, and autism spectrum disorder-like features, rare reports have described atypical teratoid\/rhabdoid tumor (AT\/RT) in PMS, suggesting a potential oncogenic link. Case Presentation: We report the clinical, molecular, and treatment features of a child with PMS and AT\/RT and review previously published cases. The proband presented with global developmental delay, absent speech, hypotonia, joint laxity, and characteristic dysmorphic features. Chromosomal microarray revealed a \u223c2.26 Mb terminal deletion at 22q13.32q13.33, encompassing 31 OMIM-listed genes including SHANK3. At 6 months of age, he was diagnosed with AT\/RT and treated with multimodal chemotherapy and craniospinal radiotherapy, achieving remission. Literature review identified additional PMS patients with AT\/RT, supporting a role for 22q instability in tumorigenesis. Conclusion: This case highlights a rare but clinically significant association between PMS and AT\/RT. Awareness of this potential link and careful radiotherapy planning are warranted to optimize outcomes in affected individuals.<\/jats:p>","DOI":"10.1159\/000553440","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T16:01:10Z","timestamp":1783353670000},"page":"1-7","source":"Crossref","is-referenced-by-count":0,"title":["Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid\/Rhabdoid Tumor Co-Occurrence"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2400-8344","authenticated-orcid":false,"given":"Dilsu Dicle","family":"Erkan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2368-5797","authenticated-orcid":false,"given":"Merve","family":"So\u011fukp\u0131nar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Varan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek-Kiper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,7,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000334260"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/s0896-6273(00)80809-0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3390\/genes13030504"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2023.104773"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086\/321293"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32775"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.741062"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s10014-022-00440-7"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3390\/cells12050820"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijrobp.2012.12.004"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37993"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2014.57.7.333"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.1997.tb00902.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.652454"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab280"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63312"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-911x(199905)32:5%3c389::aid-mpo16%3e3.0.co;2-h"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.3078"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.960263"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000553440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T16:08:25Z","timestamp":1786637305000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000553440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,6]]},"references-count":19,"URL":"https:\/\/doi.org\/10.1159\/000553440","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32889497","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,6]]}}}