[新发精神病背景下22q11.2缺失综合征的诊断]
[Diagnosis of 22q11.2 deletion syndrome in the context of newly developed psychosis].
作者信息
Kaltenboeck Alexander, Friedrich Fabian, Hinterbuchinger Barbara, Litvan Zsuzsa, Mossaheb Nilufar
机构信息
Klinische Abteilung für Sozialpsychiatrie, Universitätsklinik für Psychiatrie und Psychotherapie, Währinger Gürtel 18-20, 1090, Wien, Österreich.
School of Philosophy, Psychology and Language Sciences, The University of Edinburgh, Edinburgh, UK.
出版信息
Neuropsychiatr. 2016 Dec;30(4):223-226. doi: 10.1007/s40211-016-0203-0. Epub 2016 Nov 7.
22q11.2 deletion syndrome (clinically also known as velocardiofacial or DiGeorge syndrome) is the most common human microdeletion syndrome and can be associated with a multitude of clinical features. In this article we report the case of a 22-year-old patient from Austria who was diagnosed with previously unknown 22q11.2 deletion syndrome in the context of newly developed psychosis. Using this case as an example, we then discuss the implications of 22q11.2 deletion syndrome for clinical psychiatric practice.
22q11.2缺失综合征（临床也称为腭心面综合征或迪乔治综合征）是最常见的人类微缺失综合征，可伴有多种临床特征。在本文中，我们报告了一例来自奥地利的22岁患者，该患者在新发精神病的情况下被诊断出患有此前未知的22q11.2缺失综合征。我们以该病例为例，讨论22q11.2缺失综合征对临床精神科实践的影响。
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