title: [Spectrum of neuropsychiatric features associated with velocardiofacial syndrome (Deletion 22q11.2)].
abstract: Microdeletion 22q11.2 (22q11DS) is the most frequent chromosomal deletion known in man. Velocardiofacial syndrome is one of numerous clinical syndromes that can be attributed to this micro deletion. There is an increasing recognition of associations with neuropsychiatric disorders. Particularly, schizophrenic psychosis, attention-deficit/hyperactivity disorder (ADHD), intellectual impairment and learning disabilities, seizures and motoric abnormalities have been identified in patients with 22q11DS. Recent studies supported the association of schizophrenia and 22q11DS, but the pathogenetic implications for idiopathic schizophrenia are still controversial. We report on two clinical cases in which psychotic symptoms led to the molecularcytogenetic diagnosis of microdeletion 22q11.2. Additionally, this article gives a systematic review of literature regarding psychiatric disorders, neurologic symptoms and partly corresponding morphological brain abnormalities in 22q11 deletion syndromes.
authors.affiliation: Abteilung Sozialpsychiatrie und Psychotherapie, Medizinische Hochschule Hannover. dr.marcel.sieberer@agnes-karll-krankenhaus.de
authors.forename: M
authors.initials: M
authors.lastname: Sieberer
authors.forename: I
authors.initials: I
authors.lastname: Runte
authors.forename: A
authors.initials: A
authors.lastname: Wilkening
authors.forename: B
authors.initials: B
authors.lastname: Pabst
authors.forename: M
authors.initials: M
authors.lastname: Ziegenbein
authors.forename: H
authors.initials: H
authors.lastname: Haltenhof
mesh_terms: D000328:Adult; D014151:Anti-Anxiety Agents / Q000627:therapeutic use; D001259:Ataxia; D001289:Attention Deficit Disorder with Hyperactivity / Q000150:complications / Q000523:psychology; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications / Q000175:diagnosis / Q000523:psychology*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007361:Intelligence Tests; D007859:Learning Disabilities / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis / Q000209:etiology / Q000523:psychology*; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology / Q000523:psychology*; D011569:Psychiatric Status Rating Scales; D012559:Schizophrenia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D019966:Substance-Related Disorders / Q000453:epidemiology
chemical_list: D014151:Anti-Anxiety Agents