摘要
目的探讨Turner综合征患者由于核型的差异在临床表现上的不同。方法采用外周血淋巴细胞培养常规染色体G显带技术对14例Turner综合征进行核型分析,对比其临床表现与不同核型之间的关系。结果 Turner综合征患者临床表现多样,主要核型有单体型、嵌合型、X染色体结构异常、含Y染色体。结论 X染色体缺失或部分缺失是导致Turn-er综合征的主要原因,身材矮小、第二性征发育不良是其典型的表现,临床表现取决于核型异常的程度及异常核型和正常核型细胞系的比例。
Objective： To investigate the clinical manifestation differentiation of Turner＇s syndrome with different karyotype. Methods： The peripheral lymphocyte＇s culture and routine Gbanding karyotype analysis were applied on 14 Turner＇s children. The Turner＇s patients＇ clinical manifestation differences resulting from karyotype differences were compared and the co -relationship of pheno- type and karyotype was investigated. Results： Turner＇s syndromes show diversity in their clinical manifestations due to the karyotype diversity. The main karyotypes are 45, X monosome, mosiac, structure aberrant in X or Y chromosomes. Conclusion： Losing Whole X chromosome or partial X losing are the main reasons responsible for Turner＇s syndrome. Short statures and digenesis on secondary sexual characteristics are typical manifestations of the patients. How abnormal the syndrome would be mainly depends on how abnormal of the karyotype is, also depends on the number ratio of normal cell line to the abnormal cell line.
出处
《中国优生与遗传杂志》
2012年第7期48-48,54,共2页
Chinese Journal of Birth Health & Heredity
关键词
特纳综合征
核型
临床表现
分析
Turner＇s syndrome
Karyotype
Clinical manifestation
Analysis
