Karyotype and clinical feature analysis in forty-nine cases of Turner syndrome
10.3969/j.issn.1673-4130.2018.07.015
- VernacularTitle:49例Turner综合征的核型与临床表现分析
- Author:
Keyan LINGHU
1
;
Kun CHEN
;
Shulin LUO
;
Lingyan REN
;
Qian JIN
Author Information
1. 贵州省人民医院检验科
- Keywords:
Turner syndrome;
karyotype;
clinical features
- From:
International Journal of Laboratory Medicine
2018;39(7):817-819
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze karyotype,genetic characteristics and clinical features of Turner syn-drome.Methods Cytogenetic analysis and genetic counseling were performed for patients with the diagnosis of Turner syndrome.Results Analyzed karyotype of forty-nine patients with Turner syndrome,there are five major categories such as simple type,numerical abnormality and chimeras,structural abnormality and chime-ras,both numerical abnormality and structural abnormality chimeras,contained the Y chromosome.Abnormal karyotypes were presented at eighteen species.Simple type was the most prevalent type of patients with Turn-er syndrome(43%).Conclusion Different karyotype exhibit some different phenotype.The clinical manifesta-tion of chimeras might depend on the proportion of abnormal karyotype,Case contained the Y chromosome would be hermaphrodismy mostly.Timely diagnosis of the disease would have positive significance to preven-tion and therapy.Hormonal therapy could improve patient's height and gonad development,the case contained the Y chromosome should pay attention to prevent gonadoblastoma.
