福建莆田739例遗传咨询者细胞遗传学分析

Analysis of Cytogenetics to 739 Genetic Consultants in Putian,Fujian Province

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56例,异常率为7.58％,其中常染色体数目结构异常43例,占76.9％,性染色体数目结构异常13例,占23.1％。尤以常染色体平衡易位(19例,占33.9％)、21三体型(18例,占32.1％)最多。结论 该研究用于临床可为遗传病寻找病因及明确诊断提供依据。

Objective To investigate the key feature of medical cytogenetics of genetic consultants in Putian, Fujian Province. Method Lymphocyte in blood was detected by cytogenetics method in 739 genetic consultants. Result Abnormality of chromatosome was found in 56 cases of 739 genetic consultants (7. 58%). Among them, abnormality of number or structure of autosome was found in 43(76.9% ), that of sex chromosome was found in 13 (23.1%). The most common abnormality was autosome's balanced translocation (in 19 cases, 33. 9% ) and 21 Trisomy( in 18 cases, 32.1 % ) .