62例X染色体异常者的遗传学分析

目的分析X染色体异常者的遗传学特征。方法常规方法对我室1992～2007年共4638例患者行外周血培养,收获中期淋巴细胞制片,G显带,进行染色体核型分析。结果4638例中检出X染色体异常62例,其中X数目异常48例,X结构异常14例。结论对有体格、性腺、智力发育异的人群进行细胞遗传学检查能更好的为患者提供临床治疗依据及生育指导。

Genetic analysis of 62 patients with abnormal X chromosome

Objective To analysis the genetic characters of patients with abnormal X chromosomes. Methods Collected peripheral blood from patients and cultured by routine methods. Thenlymphocytes were harvested,G-banded chromosomes structure were analysis.Results 62 X chromosomes mutant cases were detected in 4638 inspected cases.Among them,48 were mutant in numbers and 14 were with different structures.Conclusion Cytogenetic examination in patients with abnormal sexual appearance,physique and intelligence development could provide an important basis for clinic diagnosis and therapy.