宁德地区206例遗传咨询者细胞遗传学分析

目的探讨染色体异常在不良生育,习惯性流产,智力低下,发育异常和先天畸形等病人中的发生情况.方法取患者外周血进行淋巴细胞培养,常规收获,G显带,显微镜下进行核型分析.结果 206例病人中共检出异常核型20例,异常检出率9.71%.结论结果表明染色体异常,多伴有多发畸形及智力低下,也是引起流产、死胎的重要原因.做好遗传咨询,将有助于减少先天缺陷儿的出生,对提高人口素质有重要意义.

The chromosome analysis of 206 cases for genetic counseling in Ningde district

Objective: To investigate the distribution of the chromosome aberration among the cases of unhealthy birth, habitual abortion, low intelligence, abnormal growth and congenital deformity . Methods: Culture the blood in culture medium for lymphocyte and collect the cells in routine procedure, then analyze the karyotypes by G-banding technique. Results: The chromosome aberration was found in 20 of 206 cases for genetic counseling .The rate of abnormality was 9.71%. Conclusion:The chromosome aberration is the important factor caused recurrent abortion and dead fetus, and those who have chromosome aberration are likely with frequently-occurring abnormality and low intelligence . In order to lower the birth of congenital disease and improve the quality of population, it is necessary to develop the genetic counseling.