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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.

Original publication

DOI

10.1007/s40211-016-0203-0

Type

Journal article

Journal

Neuropsychiatrie : klinik, diagnostik, therapie und rehabilitation : organ der gesellschaft osterreichischer nervenarzte und psychiater

Publication Date

12/2016

Volume

30

Pages

223 - 226

Addresses

School of Philosophy, Psychology and Language Sciences, The University of Edinburgh, Edinburgh, UK.

Keywords

Brain, Chromosomes, Human, Pair 22, Humans, DiGeorge Syndrome, Chromosome Deletion, Diagnosis, Differential, Magnetic Resonance Imaging, In Situ Hybridization, Fluorescence, Psychotic Disorders, Austria, Male, Young Adult