207例先天性精神发育迟滞儿童的染色体分析

The Analysis of Chromosomes of 207 Children with Congenital Mental Retardation.

目的通过染色体的分析，以明确包括脆性Ｘ综合征在内的各种染色体异常情况。方法本文用脆性染色体培养方法对２０７例先天性精神发育迟滞儿童的染色体进行了分析。结果发现存在８种染色体异常，总发生率２５．１２％，其中脆性Ｘ一综合征为１８．３６％，唐氏综合征仅为１．９３％，异常率男性高于女性、中重度高于轻度。由此可见先天性精神发育迟滞儿童的染色体异常率较高，尤以脆性Ｘ综合征多见。结论本文建议临床在开展普通染色体培养方法的同时应开展脆性染色体培养方法，以提高精神发育迟滞的病因诊断水平。

objective: We analysed the chromosomes of 207 children with congenital mental retardation. Methods: To culture fragile chromosomes in peripheral blood. Results: We found & hinds of chromosomal abnormals. The total incidence of the chromosomal abnormals was 25.12 %. The incidence of Fragile X Syndrome was the highest (18. 36 % ),the incidence of Down's Sydrome was lower (1. 93 % ). Conclusion: There was a high incidence of chromosomal abnormals in the children with congenital mental retardation, especially Fragile X Sydrome was much more common. Therefore, we should use the method to culture fragile chromosomes in addition to conventional chromosome culfure to raise the diagnositic level of etiology of mental retardation.