长春地区816例遗传咨询患者染色体核型与生育异常分析

目的探讨染色体核型异常与生育异常的关系。方法对2004年5月至2007年4月到吉林大学特殊疾病检测站进行遗传咨询的816例患者进行外周血淋巴细胞培养,进行染色体核型分析。结果受检的生育异常患者为816例,核型异常99例,异常率为12.13%。其中常染色体异常22例,占22.22%,性染色体异常46例,占46.46%,嵌合体异常31例占31.31%。结论染色体异常是生殖异常的重要原因之一,对生育异常患者进行染色体检查可为临床诊断和优生优育提供依据。

Analysis of chromosome karyotypes and abnormal fertility of 816 genetic counseling patients.

Objective： To study the relationships between abnormal karyotypes of patient＇s peripheral blood and abnormal fertile.Methods： By investigate 816 outpatients with genetic counseling in detection station of special disease,Jilin University from May 1,2004 to April 30,2007.Their peripheral lymphocytes were cultured and the abnormal karyotypes were analyzed.Results： There were 99 cases of abnormal karyotypes in 816 patients with genetic counseling.Of which,22 cases were abnormal karyotypes of euchromosome;46 cases were sex chromosome and 31 cases were mosaic.Conclusion： The abnormal karyotype is the most one of important reasons which causes of the abortion,stillbirth fetus,teratism,male infertility and abnormal development.