Case Report: The Association Between Chromosomal Anomalies and Cluster A Personality Disorders: The Case of Two Siblings With 16p11.2 Deletion and a Review of the Literature

Frontiers in Psychiatry

Lucio Oldani¹  Elisabetta Caletti¹  Alessio Fiorentini¹  Paolo Brambilla¹  Paolo Enrico²  Cecilia Maria Esposito²  Domenico Sciortino²  Giulia Bruna Marchetti³  Claudia Cesaretti³ 

[1] Department of Neurosciences and Mental Health, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy;Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy;Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy;

关键词: personality disorder;    paranoid personality;    genetic;    chromosome;    duplication;    deletion;   

DOI  :  10.3389/fpsyt.2021.689359

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown