摘要
22q11.2缺失综合征(22q11.2DS)是由22号染色体上的常染色体显性微缺失引起的神经遗传学疾病,男女发病率相等,患病率约为每4000名新生儿中就有1名,是人类最常见的遗传微缺失综合征之一。22q11.2DS在临床上可表现为先天性心脏畸形、胸腺发育不良、低钙血症、神经发育和精神性障碍等疾病,除了身体表现外,22q11.2DS与精神障碍的高患病率有关,它正在影响着全世界儿童的健康成长,因此关注该病在精神障碍方面的表现形式至关重要。本文就22q11.2DS精神障碍表现形式进行综述。
22q11.2 deletion syndrome(22q11.2DS)is a neurogenetic disease caused by autosomal dominant microdeletions on chromosome 22.The incidence is equal in men and women,and the prevalence rate is about 1 in 4000 newborns.It is one of the most common genetic microdeletions in human beings.Clinical manifestations of 22q11.2DS include congenital heart malformation,thymic dysplasia,hypocalcemia,neuro developmental and psychiatric disorders.In addition to physical manifestations,22q11.2DS is related to the high prevalence rate of mental disorders,which is affecting the healthy growth of children all over the world,so it is very important to pay attention to the manifestations of mental disorders.This article reviews the manifestations of mental disorders in 22q11.2DS.
作者
任静然
田执梁
REN Jing-ran;TIAN Zhi-liang(The Second Affiliated Hospital of Harbin Medical University,Harbin,150086)
出处
《中国优生与遗传杂志》
2020年第7期817-819,862,共4页
Chinese Journal of Birth Health & Heredity
