临床与病理杂志2017，Vol.37Issue(2)：221-226,6.DOI:10.3978/j.issn.2095-6959.2017.02.001
特纳综合征患者的染色体核型及临床表现特点
Clinical features and chromosomal karyotype of Turner syndrome
摘要
Abstract
Objective:To analyze the chromosomal karyotype and clinical features in patients with Turner syndrome (TS) in order to improve the acknowledge and diagnositic level of this disease and to provide clinical evidence for the early detection of the special karyotype in these patients.Methods:We analyzed and summarized the clinical manifestations,sex hormone levels,bone ages and chromosome karyotypes of the patients who had been diagnosed as TS.Results:Among 24 cases of patients who were diagnosed as TS,short stature was the first clinical manifestations,50％ of the patients had the bone ages delayed with their chronological ages;50％ of the patients had typical signs of TS,83.33％ of the patients had significantly higher levels of gonadotropin,50％ of the patients had no ovaries.Karyotypes of TS were analyzed,in which 33.33％ were 45,XO,50％ were 45X chimera,the rest were other types;16.67％ in all patients had pituitary adenomas,8.33％ with cardiovascular abnormalities,some patients had abnormal electrocardiogram,8.33％ of the patients had an increased level of thyroid stimulating hormone;PCR detection of SRY gene were negative,we did not find Y chromosome.Conclusion:In patients with TS,the clinical manifestations were different due to the different cell karyotypes,and the karyotypes and clinical manifestations were not completely corresponding.The chromosome detection should be done in all girls with short stature.For the patients with specific chromosomes which couldn't identified by traditional karyotype analysis,or which with the karyotype of 45,XO,detection of Y chromosome should be done as soon as possible.It will lead to the discovery of abnormal Y chromosome and provide the basis for deciding whether to need preventive resection gonads.关键词
特纳综合征/染色体/核型分析/临床表现/Y染色体Key words
Turner syndrome/karyotype analysis/clinical manifestation/Y chromosome引用本文复制引用
郭玉秀,崔燕,曾碧荷,陶月红..特纳综合征患者的染色体核型及临床表现特点[J].临床与病理杂志,2017,37(2):221-226,6.基金项目
扬州市基础研究计划(自然基金)面上项目(YZ2015092) （自然基金）
江苏省苏北人民医院院级课题(Yzucms201415). This work was supported by Yangzhou Basic Research Project (Natural Foundation) (YZ2015092) （Yzucms201415）
Hospital Level Subject of Subei People's Hospital of Jiangsu Province (Yzucms201415),P.R.China. （Yzucms201415）
