厦门地区83例遗传咨询者细胞遗传学染色体核型分析  

Analysis of chromosomal karyotypes in 83 cases of cytogenetic counseling.

作　　者：张旺东[1] 林丽蓉[1] 

机构地区：[1]厦门大学附属中山医院临检中心遗传室,361004

出　　处：《中国优生与遗传杂志》2006年第5期56-57,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的对83例遗传咨询者进行细胞遗传学染色体核型分析。方法外周血淋巴细胞培养法,常规制备染色体,G显带。结果按主诉分为三组:不良孕产史或不孕不育者异常染色体检出率为6.4%;性发育不良者异常染色体检出率为30.0%;智力低下或身体发育不良者异常染色体检出率为31.3%,其中21三体占异常染色体80.0%。结论孕前,有不良孕产史患者的染色体检查;产前,唐氏综合征和平衡易位患者胎儿的筛查;出生后,性发育不良患者的染色体检查是优生优育中值得注意的问题。Objective： Analysis of chromosomal karyotypes in 83 eases of eytogenetie counseling. Methords： Chromosomes were prepared after 72 hours culture of blood. G - banding were used to analyze karyotypes. Resuhs： Abnomalities frequency is 6.4% in case of cacoethic obstetrical history, 30. 0% in case of sexual development abnormity, 31.3% in case of mental or physical retardation including Downg syndrome. Conclution： It is important for birth health to examine chromosome keryotpes of couple whom have cacoethic obstetrical history before pregnancy and to diagnose Downg syndrome before birth. To test the chromose of sick whom has sexual development abnormity as early as possible is important too.

关 键 词：细胞遗传学 染色体 核型 咨询 优生优育 

分 类 号：R394[医药卫生—医学遗传学]