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Fortschr Neurol Psychiatr ; 74(5): 263-74, 2006 May.
Article in German | MEDLINE | ID: mdl-16758538

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.


Subject(s)
DiGeorge Syndrome/psychology , Mental Disorders/psychology , Nervous System Diseases/psychology , Adult , Anti-Anxiety Agents/therapeutic use , Ataxia , Attention Deficit Disorder with Hyperactivity/complications , Attention Deficit Disorder with Hyperactivity/psychology , Brain/abnormalities , Brain/pathology , Chromosomes, Human, Pair 22/genetics , DiGeorge Syndrome/complications , DiGeorge Syndrome/diagnosis , Female , Gene Deletion , Humans , Intelligence Tests , Learning Disabilities/etiology , Magnetic Resonance Imaging , Male , Mental Disorders/diagnosis , Mental Disorders/etiology , Nervous System Diseases/diagnosis , Nervous System Diseases/etiology , Psychiatric Status Rating Scales , Schizophrenia/diagnosis , Schizophrenia/etiology , Schizophrenia/genetics , Substance-Related Disorders/epidemiology
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