柳州地区52例Klinefelter综合征的细胞遗传学与临床分析

Analysis on the cytogenetics and clinecal with Klinefelter symdrome in 52 cases for Liuzhou region

目的通过综合分析Klinefelter综合征的细胞遗传学特征及临床特点,深入探讨Klinefelter综合征的产生机理、治疗及生育等问题。方法回顾性分析52例Klinefelter综合征患者的临床资料。染色体分析采用外周血淋巴细胞培养法,Giemsa染色,显微镜下计数30个分裂相,综合分析3-5个核型。结果 52例Klinefelter综合征患者中,47,XXY47例,占90.4%,嵌合型两例3.8%,47,XXY,inv(9)(p11;q13)一例,占1.9%,48,XXY,+21一例,占1.9%,49,XXXXY一例,占1.9%。结论细胞遗传学染色体核型分析是确诊Klinefelter综合征的主要手段,尽早诊断,及时合理的治疗对提高患者生活适应能力,改善精神状态,解决婚育问题有着重要的临床意义。

Objective： To study the phenotype and cytogenetic characteristic of the Klinefelter syndrome,and the generation mechanism of the Klinefelter syndrome,treatment and fertility problems.Methods： Retrospective analysis the clinical data of 52 cases of Klinefelter syndrome.Using peripheral blood lymphocyte culture and Giemsa stainunder,counting 30 split-phase with microscope comprehensive analysis of 3-5 karyotype to analysis the chromosome.Results：In the 52 cases,the karyotype of 47,XXY was 47,accounting for 87.5%,mosaic karyotype was 2 cases,accounting fo r 3.8%,each of 48,XXYY,48,XXY,＋21 and 49,XXXXY was 1 cases,respectively accounting for 1.9%.Conclusion： The cytogenetic analysis was the main diagnostic approach.It is helpful that give them diagnosis and reasonable treatment early and timely for improving the life of patients,including the state of mind,and solving marriage and child rearingproblems.