众所周知,染色体疾病常常引起不同程度的智力发育迟钝,但是引起智力迟钝发生的机理还不清楚,虽然有人认为染色体异常决定的智力迟钝可能是通过代谢紊乱引起的,但也有人认为染色体异常决定的智力迟钝更可能是由于神经系统形态学改变所致,甚至认为一些中枢神经系统的特殊畸形,是某些染色体畸变的特定表型。本文对人类染色体疾病的神经病理学作一简要的介绍。 It is well-known that chromosomal diseases often lead to different degrees of mental retardation, but the mechanism of mental retardation is unclear. Although some people think that mental retardation caused by chromosomal abnormality may be caused by metabolic disorders, some people think that chromosomal abnormalities determine the intelligence Retardation is more likely to be due to changes in the morphology of the nervous system, and even some special deformities of the central nervous system are thought to be specific phenotypes of some chromosomal aberrations. This article gives a brief introduction to the neuropathology of human chromosomal diseases.