198例遗传咨询者外周血染色体核型分析

目的:探讨染色体异常核型在遗传咨询患者中的发生情况。方法:常规外周血染色体核型分析。结果:198例患者中检出31例染色体异常核型,异常检出率为15.66%。性染色体异常核型22例(70.97%),其中数目异常9例(29.03%),嵌合型5例(16.13%),结构异常8例(25.81%);男性反转综合征1例(3.22%);常染色体异常核型8例(25.81%),其中数目异常5例(16.13%),结构异常3例(9.68%)。结论:染色体异常是发育不良、不孕不育、智力障碍、先天畸形等疾病的重要原因之一。这类患者进行染色体检查,对临床治疗及优生具有极其重要的指导意义。

Analysis on chromosome karyotype in peripheral blood from 198 patients with ge-netic counseling

Objective:To explore the incidence of abnormal karyotypos of chromosome analysis in genetic counseling patients.Methods:Routine method to karyotype analysis of peripheral blood was used in the study.Results:Among 198 cases,31 cases were found abnormal karyotypcs(15.66%).The percentage of sex chromosome abnormalities was 70.97%(22 cases),including 9 cases of number abnormalities(29.03%),5 cases of mosaicism(16.13%),8 cases of structure abnormalities(25.81%);the percentage of sex-reversal syndrome was 3.22%(1 case);the percentage of euchromosome abnormalities was 25.81%(8 cases),including 5 cases of number abnormalities(16.13%) and 3 cases of structure abnormalities(9.68%).Conclusion:Chromosomal abnormality is a important reason in the dysplasia,infertility,dysnoesia and congenital deformity.Chromosome inspection and karyotype analysis were of great significance to discover predisposing factors and direct eugenic operations for patients with the above-mentioned phenotypes.