400例遗传咨询者细胞遗传学分析

Cytogenetic Analysis on 400 Genetic Counseling Patients

[目的 ]探讨反复自然流产、不育症、智力低下等症的遗传学原因。 [方法 ]对 40 0例遗传咨询者进行外周血淋巴细胞遗传学检查。[结果 ]发现 3 8例染色体异常核型 ( 9 5 % ) ,不良孕产史者检出率 6 3 % ( 18/ 2 84) ,不育、不孕症18 5 % ( 15 / 81) ,智力低下者 4/ 10 ;不良孕产史以平衡易位、倒位为主 ,不育以性染色体异常、大Y为主 ,智力低下均为2 1三体。 [结论 ]无论是染色体数目异常还是染色体结构异常 ,都可导致先天畸形、智力低下、流产、不孕和生长发育障碍等。

Objective To study the cytogenetics factors for recurrent spontaneous abortion,infertility and hypophrenia. Peripheral lymphocytes were detected by cytogenetics method for 400 genetic counseling patients. Abnormal chromosome was found in 38 patients (9.5%). The rate of abnormal gestation and birth was 6.3% (18/284),infertility was 18.5% (15/81) and metal retardation was 4/10. The main factor: Abnormal gestation was balanced translocation or invertion;Infertility was abnormal sex chromosome or big Y;And hypophrenia was Downs. [Conclusions ] The abnormal chromosome number or structure will result in congenital malformation,hypophrenia,abortion,infertility and growth obstruct.