Castelein L, Steyaert J, Peeters H, van Buggenhout G
Tijdschr Psychiatr. 2019;61(6):421-425.
Genetic factors play an important role in the development of psychotic disorders. With increasing evidence, several rare copy number variants (cnvs) have been identified as risk factors. We describe a patient who had two psychotic episodes during his adolescence. In this patient, a 16p11.2 duplication was detected. This duplication is a recurrent cnv associated with various somatic and psychiatric phenotypes including psychosis and schizophrenia. The potential clinical relevance of this finding is discussed.
遗传因素在精神障碍的发展中起着重要作用。随着证据的增加，几种罕见的拷贝数变异（CNV）已被确定为风险因素。我们描述了一名在青春期经历过两次精神病发作的患者。在该患者中，检测到16p11.2重复。这种重复是一种与包括精神病和精神分裂症在内的各种躯体和精神表型相关的复发性CNV。本文讨论了这一发现的潜在临床意义。
