A Case Report of Schizophrenia Patient with 22q11 Deletion Syndrome / 신경정신의학

ABSTRACT

It has been well known that 22q deletion syndrome (22qDS), encompasses several genetic syndromes associated with microdeletions at chromosome 22q11.2 became relatively generally identified in the 1990s through the availability of specialized chromosomal studies, and it includes such syndromes as velocardiofacial syndrome (VCFS), DiGeorge syndrome (DGS), Shprintzen syndrome, CATCH 22. The syndrome is characterized by distinctive dysmorphology, congenital heart disease, athymia, parathyroid disease, other congenital diseases, learning difficulties and various psychiatric illnesses. This syndrome is a common genetic condition often accompanied by mild cognitive impairment. Learning difficulties and anger outburst are also common in adolescence with this syndrome. In addition, a prevalence of major psychiatric disorders in adults' individuals are high, especially schizophrenia, schizoaffective disorder, bipolar disorder and other psychiatric illnesses, including simple or social phobia, depression, obsessive-compulsive disorder. We report a patient with facial dysmorphology, cleft lip and palate, ventricular septal defect, borderline IQ, poor impulse control and psychotic symptoms who was diagnosed schizophrenia and 22qDS by FISH analysis which finds 22q11.2 microdeletion.