摘要
16p11.2综合征是由染色体16p11.2区域缺失或重复引起的遗传性综合征,其临床表型具有广泛的异质性和不完全外显性。16p11.2微缺失综合征的表型特征是发育迟缓、智力障碍、孤独症谱系障碍和肥胖等;而16p11.2微重复综合征的临床表型特征是孤独症谱系障碍、精神分裂症、智力障碍和小头畸形等。16p11.2综合征的核心易感区是chr16:28.8~29.0 Mb(BP2-BP3)的220 kb大小的远端区域和chr16:29.6~30.2 Mb(BP4-BP5)的593 kb大小的近端区域,其主要发生机制是区域内的低拷贝重复序列通过非等位基因同源重组介导再发的基因组重排。随着染色体微阵列分析在产前诊断中的广泛应用,越来越多的微重复和微缺失综合征被发现。而16p11.2综合征尚无有效的治疗方法,因此详细了解该病的临床表型特征、发病机制、主要候选基因等,可为产前遗传咨询提供依据,从而进行生育指导。
The 16p11.2 syndrome is caused by the microdeletion or microduplication of chromosome 16p11.2 region,which is characterized by extensive heterogeneity and incomplete penetrance.The phenotype of 16p11.2 microdeletion is characterized by developmental retardation,intellectual disability,autism spectrum disorder(ASD),and morbid obesity,while the phenotype of 16p11.2 microduplication is characterized by ASD,schizophrenia,intellectual disability and microcephaly.Two core susceptible regions of 16p11.2 are a distal breakpoints(BP)at 28.8-29.0 Mb(BP2-BP3)of 220 kb and a proximal BP at 29.6-30.2 Mb(BP4-BP5)interval of 593 kb.Recurrent rearrangements of nonallelic homologous recombination between highly similar duplicated sequences lead to the deletion or duplication of 16p11.2.With the wide application of chromosome microarray analysis as a prenatal diagnostic technique,chromosomal microdeletions and microduplications are increasingly recognized.However,there is currently no effective therapeutic method for 16p11.2 syndrome.Therefore,a detailed understanding of the clinical manifestations,mechanism and candidate genes of 16p11.2 syndrome may provide a basis for genetic counseling.
作者
杨小梅
吴琦嫦(审校)
YANG Xiao-mei;WU Qi-chang(Department of Prenatal Diagnostic,Women and Children′s Hospital Affiliated to Xiamen University/Xiamen Maternal and Child Health Hospital,Xiamen 361003,Fujian Province,China)
出处
《国际生殖健康／计划生育杂志》
CAS
2022年第3期245-251,共7页
Journal of International Reproductive Health/Family Planning
关键词
遗传关联研究
产前诊断
基因检测
16p11.2综合征
微缺失
微重复
Genetic association studies
Prenatal diagnosis
Genetic testing
16p11.2 syndrome
Microdeletion
Microduplication
