Cytogenetic analysis of 16 case of Turner syndrome
Cytogenetic analysis of 16 case of Turner syndrome
复制标题
特纳综合征16例细胞遗传学分析
DOI：
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发表时间：
2013
期刊：
影响因子：
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通讯作者：
Ha Xiao
中科院分区：
文献类型：
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作者：
Ha Xiao
目的：分析特纳综合征不同染色体核型与临床表现的关系。方法：采用外周血淋巴细胞G带分析患者的染色体。结果：16例特纳综合征患者中有6例嵌合45，XO(37.50%)；马赛克46例，x /46，XX(6.25%)；1例46例，Xi(Xq)(6.25%)；4例47，XXX(25.00%)；46、XY/45、X0 3例（18.75%）；1例46，XX,del(Xq24)（6.25%）。结论：turner综合征的主要原因是X染色体的数量异常和结构畸变。许多器官功能障碍，如生长迟缓、性腺发育不良、闭经、智力低下等都是由核型异常引起的。
Objective:To analyze the association between various chromosome karyotypes of Turner Syndrome and their clinic manifestation.Methods:G banding of peripheral blood lymphocytes were used to analyze chromosomes in the patients.Results:Among 16 Turner syndrome patients there were 6 case of mosaic 45,XO(37.50%);1 case of mosaic 46,X0/46,XX(6.25%);1 case of 46,Xi(Xq)(6.25%);4 case of 47,XXX(25.00%);3 case of 46,XY/45,X0(18.75%);1 case of 46,XX,del(Xq24)(6.25%).Conclusion:The primary reason of turner syndrome is the numerical anomalies and structural aberrations aberrations of X chromosome.Many kinds of organ dysfunctions,such as slow growth,gonadal dysgenesis,amenorrhea and mental retardation are caused by abnormal karyotype.