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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

Neuropsychiatr

Publication Date

12/2016

Volume

30

Pages

223 - 226

Keywords

22q11.2 deletion syndrome, First episode psychosis, Schizophrenia spectrum disorder, Velocardiofacial syndrome, Austria, Brain, Chromosome Deletion, Chromosomes, Human, Pair 22, DiGeorge Syndrome, Diagnosis, Differential, Humans, In Situ Hybridization, Fluorescence, Magnetic Resonance Imaging, Male, Psychotic Disorders, Young Adult