论文部分内容阅读
目的对早孕期绒毛标本进行染色体核型分析,探讨特纳综合征的临床意义及遗传咨询。方法对2012年1月到2015年12月在广西壮族自治区妇幼保健院遗传门诊就诊的患者,产前诊断抽取绒毛组织,常规G显带进行染色体核型分析。结果受检者3082例绒毛标本中检测出54例Turner综合征。染色体核型以X单体型、嵌合型为主;其中45,X 33例,在异常核型中占61.1%,嵌合体(包含有Y染色体核型)16例,在异常核型中占29.6%。X染色体结构异常2例,在异常核型中占3.7%等。结论 Turner综合征患者有身材矮小、第二性征发育不良等典型的临床表现,早孕期检测出特纳综合征,应做好产前诊断遗传咨询。
Objective To analyze the karyotypes of chorionic villi in early pregnancy and discuss the clinical significance of Turner’s syndrome and genetic counseling. Methods From January 2012 to December 2015 in Guangxi Zhuang Autonomous Region MCH pediatric outpatient treatment of patients, prenatal diagnosis of villus removal, conventional G-banding chromosome karyotype analysis. Results A total of 54 cases of Turner’s syndrome were detected in 3082 villi specimens. Chromosome karyotype X monomeric, chimeric mainly; of which 45, X 33 cases, accounting for 61.1% of the abnormal karyotype, chimera (including Y chromosome karyotype) in 16 cases of abnormal karyotype 29.6%. X chromosome abnormalities in 2 cases, 3.7% in abnormal karyotype. Conclusion Turner syndrome patients with short stature, secondary sexual characteristics such as hypoplastic typical clinical manifestations, Turner syndrome detected in early pregnancy, genetic counseling should be done prenatal diagnosis.