780例遗传咨询者外周血染色体核型分析

目的：探讨外周血染色体核型分析在染色体病诊断中的价值。方法对2013年1月至2015年8月期间来我院进行遗传咨询的780例患者行外周血染色体核型分析。结果780例患者中共检出异常核型30例，异常核型检出率为3.85%，其中染色体数目异常12例，染色体结构异常18例，新生儿表现异常、生长发育异常和不孕不育中以染色体数目异常为主，不良孕产史中以染色体结构异常为主。结论外周血染色体核型分析对染色体病导致的新生儿表现异常、生长发育异常、不孕不育和不良孕产史等疾病的诊断具有重要价值。

Analysis of the peripheral blood chromosomal karyotype from 780 genetic consultants

Objective To evaluate the role of peripheral blood chromosomal karyotype analysis in disease diag-nosis of chromosomal disorder. Methods The cytogenetic karyotype of peripheral blood derived from 780 genetic counseling cases were analyzed during January 2013 to August 2015. Results There were 30 cases of chromosomal ab-errations to be detected and the abnormal rate was 3.85%, including 12 cases of numeric aberrations and 18 cases of structural aberrations. In neonatal disorder group, developmental disorder group and infertile group, the main type of chromosomal aberrations was the numeric abnormality, and it was mainly structural abnormality in the abnormal gesta-tion and birth group. Conclusion The detection of the peripheral blood chromosomal karyotype may play an important role in the diagnosis of neonatal disorder, developmental disorder, infertility and abnormal gestation and birth.