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Im Falle des vorgestellten m\u00e4nnlichen Patienten handelt es sich um die seltene Beschreibung eines Tourette-Syndroms auf der Grundlage eines 22q11.2-Mikrodeletionssyndroms. Die folgenden zwei Fallbeispiele demonstrieren die Vielfalt assoziierter klinischer Pr\u00e4sentationen, selbst auf der Grundlage einer \u00fcbereinstimmenden und umschriebenen genetischen Aberration. Eine Charakterisierung solcher Patient*innen im Kontext der klinisch-wissenschaftlichen Praxis anhand der Research Domain Criteria (RDoC) erm\u00f6glicht eine transdiagnostische Beschreibung der \u00fcberlappenden wie auch spezifischen neuropsychiatrischen Funktionseinschr\u00e4nkungen. Eine solche dimensionale Charakterisierung erlaubt somit potenziell auch eine genauere Differenzierung pleiotroper Assoziationen zwischen Genotyp und Ph\u00e4notyp.<\/jats:p>","DOI":"10.1007\/s00115-021-01226-6","type":"journal-article","created":{"date-parts":[[2021,11,4]],"date-time":"2021-11-04T15:02:52Z","timestamp":1636038172000},"page":"483-487","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Heterogene neuropsychiatrische Ph\u00e4notypen bei zwei erwachsenen Patient*innen mit 22q11.2-Deletionssyndrom (DiGeorge-Syndrom): ein Fall f\u00fcr RDoC?"],"prefix":"10.1007","volume":"93","author":[{"given":"Peter","family":"Praus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Urs","family":"Braun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Bleich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Meyer-Lindenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Hennig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,4]]},"reference":[{"key":"1226_CR1","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1023\/B:JADD.0000022607.19833.00","volume":"34","author":"S Baron-Cohen","year":"2004","unstructured":"Baron-Cohen\u00a0S, Wheelwright\u00a0S (2004) The empathy quotient: an investigation of adults with Asperger syndrome or high functioning autism, and normal sex differences. 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