Chromosome 22 deletion syndrome and schizophrenia.
作者： Nigel M. Williams , Michael C. O'Donovan , Michael J. Owen
DOI: 10.1016/S0074-7742(06)73001-X
关键词: Schizophrenia 、 Gene 、 Chromosome 22 、 Biology 、 Genetics 、 Haploinsufficiency 、 TBX1 、 DiGeorge syndrome 、 Genetic analysis 、 Chromosome
摘要: Publisher Summary A microdeletion at chromosome 22q11 is the most frequent known interstitial deletion found in man, occurring approximately 1 every 4000 live births. Its occurrence associated with a characteristic facial dysmorphology, range of congenital abnormalities, and psychiatric problems especially schizophrenia. Recent studies have provided compelling evidence that haploinsufficiency TBX1 likely to be responsible for many physical features deletion. number genes recently been implicated as possible schizophrenia susceptibility loci, however, now these findings remain ambiguous, further detailed genetic analysis required. Deletions heterogeneous clinical syndromes, which include DiGeorge syndrome, Velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome. The chapter assesses recent literature order consider nature this association within deleted region claimed loci
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