精神疾病屬於複雜性遺傳疾病，基因功能的異常是主要的致病原因，並且與遺傳背景高度相關。與精神疾病症狀相關的基因有很多， 因此要找出切確精神疾病的致病基因相對困難，目前臨床上並無可以用於診斷精神疾病的分子生物學標記。最近的研究發現，精神疾病與基因體重組造成的基因體不平衡有關，因此鑑別精神疾病患者是否帶有與疾病相關的基因體重組，可以幫助精神疾病的臨床診斷。我們利用細胞遺傳分析法及基因組微陣列晶片分析檢測智能障礙、發育異常、精神分裂症及自閉症患者的基因組，發現病人帶有家族遺傳的基因體重組，其中包括帶有 t(1;12)(p32.1;q21.3)平衡染色體互換的先天智能障礙家族及造成家族性Nance-Horan 症候群的Xp22.13微染色體缺失，另外有三個精神分裂症家族分別在染色體6q12-13、18q12.3及15q11.2-13.1上帶有微缺失或重複，並於一個自閉症患者身上發現帶有分別來自母親的4q12-13.1 微染色體缺失及父親的5q32 微染色體重複。我們的研究結果顯示了基因體重組導致精神疾病的可能性，並且提供了相關的染色體位點及精神疾病候選致病基因資訊，這些結果可作為臨床診斷的參考，並對精神疾病病因提出分子生物學上的證據，進一步希望能對精神疾病的治療提供未來的方向。

Mental disorders are complex genetic disorders; genetic deficiency is the major cause of mental disorders and which is likely highly individualized. Moreover, mental disorders might be correlated with multiple genes dysfunction. At present, there are no applicable biological markers to facilitate the clinical diagnosis of mental disorders. In recent studies, genomic rearrangement was found to contribute significantly to the genetic etiology of mental disorders. Using cytogenetic analysis and array-based comparative genomic hybridization (array-CGH analysis) we identified several genomic rearrangements in patients diagnosed with mental retardation, developmental abnormalities, schizophrenia, or autism. We identified a balanced translocation t(1;12)(p32.1;q21.3) in a family with mental retardation, a micro- deletion at Xp22.13 in a family with Nance-Horan syndrome. In schizophrenia patients, we identified three families with micro-duplications or micro-deletions at 6q12-13, 18q12.3 and 15q11.2-13.1, respectively, Furthermore, we also found an autism patient who carried a 4q12-13.1 micro-deletion and a 5q32 micro-duplication that inherited from mother and father, respectively. Our research reveals the association between genomic rearrangements and mental disorders and provides the information of susceptible loci and candidate genes associated with mental and development disorders. These results can be the references for clinical diagnosis and biological evidences of etiology in mental disorders. Furthermore, these findings may provide useful information for the prospective treatment of mental disorders.

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