智力障碍或发育迟缓的分子遗传学研究进展

Advances in molecular genetics of intelligence disability or developmental delay

智力障碍或发育迟缓是以认知功能和社会适应功能的缺陷为主要临床特征，其中2/3病因不明，临床表现多样，致残率高，且治愈较为困难。近年来随着新一代测序技术的应用，对智力障碍或发育迟缓的病因和发病机制有了更多的认识。现已发现多个染色体拷贝数变异可导致智力障碍或发育迟缓。该文总结智力障碍或发育迟缓的临床、影像学，病因等，特别阐述了最新的分子遗传学研究进展。

Intelligence disorder or developmental delay is the defect of cognitive function and social adaptation function as the main clinical features, two-thirds of the etiology is unknown.Clinical manifestations, high morbidity, and low treatment outcome are the major challenge for us.In recent years, with the application of the new generation of sequencing technology, We have gained further understanding of the etiology and pathogenesis of intelligent disorder or developmental delay.It has been found that multiple copies of chromosomal copies can lead to it.This paper summarizes the clinical, imaging and etiology of intelligent disorder or developmental delay, especially the recent advances in molecular genetics.