PDF(Pubmed)
Abstract：
Although several studies have shown the correlation between chromosomal rearrangements and the risk of developing psychotic disorders, such as schizophrenia, little attention has been given to identifying the genetic basis of pre-disposing personality so far. In this regard, a limited but significant number of studies seem to indicate an association between chromosomal anomalies and cluster A personality disorders (CAPD). Starting from the clinical description of two brothers affected by familial 16p11 deletion syndrome (OMIM #611913), both sharing cluster A and C personality traits, the aim of the present study is to critically review the literature regarding the correlation between chromosomal rearrangements and CAPD. A bibliographic search on PubMed has been conducted, and eight studies were finally included in our review. Most of the studies highlight the presence of schizotypal personality disorder in the 22q11.2 deletion syndrome, whose evolutionary course toward psychotic pictures is well-known. One study also identified a paranoid personality disorder in a patient with a deletion on chromosome 7q21.3. No studies have so far identified the presence of paranoid personality disorder in 16p11 deletion, as in the case of the two siblings we report, while its association with psychosis and autism is already known. Although further epidemiologic studies on broader populations are indicated, our observations might pave the way for the definition of new diagnostic subgroups of CAPD and psychotic disorders, in order to implement the clinical management of such complex conditions.
摘要：
尽管一些研究表明染色体重排与发生精神病的风险之间存在相关性，比如精神分裂症，到目前为止，很少有人关注确定预处置人格的遗传基础。在这方面,数量有限但相当多的研究似乎表明染色体异常与A型人格障碍(CAPD)之间存在关联.从患有家族性16p11缺失综合征（OMIM＃611913）的两个兄弟的临床描述开始，都具有集群A和C的人格特质，本研究的目的是批判性地回顾有关染色体重排与CAPD相关性的文献.已经在PubMed上进行了书目搜索，8项研究最终纳入我们的综述.大多数研究强调了22q11.2缺失综合征中分裂型人格障碍的存在，他们对精神病图片的进化过程是众所周知的。一项研究还确定了染色体7q21.3缺失的患者的偏执型人格障碍。到目前为止，还没有研究发现16p11缺失中存在偏执型人格障碍，就像我们报道的两个兄弟姐妹一样，虽然它与精神病和自闭症的关系是已知的。尽管表明了对更广泛人群的进一步流行病学研究，我们的观察可能为CAPD和精神病的新诊断亚组的定义铺平道路，为了实施这种复杂条件的临床管理。
