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In this study, we describe a young female patient exhibiting symptoms of <jats:italic>TSC2\/PKD1<\/jats:italic> CGS in which genetic analysis disclosed two noncontiguous partial gene deletions in <jats:italic>TSC2<\/jats:italic> and <jats:italic>PKD1<\/jats:italic> that putatively are responsible for the manifestations of the syndrome. Further analysis revealed that both deletions appear to be de novo on the maternal chromosome, presumably with a germline origin. Despite extensive analysis, no maternal chromosomal rearrangement triggering these pathogenic variants was detected. This case elucidates a unique pathogenesis for <jats:italic>TSC2\/PKD1<\/jats:italic> CGS, diverging from the common contiguous deletions typically observed, marking the first reported instance of <jats:italic>TSC2\/PKD1<\/jats:italic> CGS caused by independent, functionally significant partial gene deletions.<\/jats:p>","DOI":"10.1002\/ajmg.a.63830","type":"journal-article","created":{"date-parts":[[2024,8,3]],"date-time":"2024-08-03T00:54:36Z","timestamp":1722646476000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Atypical noncontiguous <i>TSC2\/PKD1<\/i> gene deletions presenting as tuberous sclerosis\/polycystic kidney disease contiguous gene syndrome"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4229-2737","authenticated-orcid":false,"given":"Marc","family":"Ventayol\u2010Guirado","sequence":"first","affiliation":[{"name":"Health Research Institute of the Balearic 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