福建莆田739例遗传咨询者细胞遗传学分析

目的 :探讨福建莆田遗传咨询者的医学细胞遗传学主要特征。方法 :采用细胞遗传学方法对 739例遗传咨询者进行外周血淋巴细胞检查。结果 :739例遗传咨询者中发现染色体异常 5 6例 ,异常率为 7.5 8% ,其中常染色体数目结构异常 4 3例 ,占 76 .9% ,性染色体异常 13例 ,占 2 3.1%。结论 :智力低下、不良孕产史、性发育异常与遗传染色体异常密切相关 ,不良孕产史推出异常核型率 3.31% ,较正常群体的 0 .5 %显著性增高 ,与文献报道基本符合

GENTEICS ANALYSIS OF 739 GENETIC COUNSELING PEOPLE OF FUJIAN PUTIAN REGION

Objective: To investigate the main characteristic of medical genetics of Fujian Putian genetic counseling people . Method: Exam periphery blood lympha cell of 739 genetic counseling people by cytogenetics method .Result: There are 56 chromosome abnormality in 739 cases, include 43 autosomal abnormalities (76.9%) and 13 sex chromosome abnormalities (23.1%) . Conclusion :The feeblemindedness, cacoethic obstetrical history and sexual development abnormity are close correlation with genetic chromosome abnormalities .The detectable rate of abnormity karyotype is 3.31%,which is obvious higher than that of normal colony (0.5%).It is coincidence with document report.