CAJ | 학술논문

目的探讨Turner综合征不同核型的遗传学特征及产前诊断对Turner综合征检出的临床意义。方法高危孕妇通过羊膜腔穿刺术进行羊水细胞染色体核型分析。结果产前诊断发现Turner综合征7例，其中45，XX 4例；45，X/46，XX/47，XXX 1例；45，X/46， X,+mar 1例；46，X，t（X；14）1例。结论 Turner综合征包括X染色体数目异常和结构畸变等多种核型，均可不同程度导致女性不孕及其他器官功能异常。应做好产前诊断，预防出生缺陷的发生。
목적탐토Turner종합정불동핵형적유전학특정급산전진단대Turner종합정검출적림상의의。방법고위잉부통과양막강천자술진행양수세포염색체핵형분석。결과산전진단발현Turner종합정7례，기중45，XX 4례；45，X/46，XX/47，XXX 1례；45，X/46， X,+mar 1례；46，X，t（X；14）1례。결론 Turner종합정포괄X염색체수목이상화결구기변등다충핵형，균가불동정도도치녀성불잉급기타기관공능이상。응주호산전진단，예방출생결함적발생。
Objective To analyze the genetic characteristics of various chromosome karyotypes of Turner Syndrome and the significance of the prenatal diagnosis indications for Turner Syndrome. Methods Amniocentesis was used to analyze fetal chromosomal karyotypes in high-risk pregnant women. Result There were 7cases of Turner Syndrome in the prenatal diagnostic samples. Among these cases, there were 4 cases of 45,X;1 cases of 45,X/46,xx/47,XXX;1 cases of 45,X/46,X,+mar;1 cases of 46,X,t(x;14).Conclusion Turner Syndrome include abnormalities of chromosome number and struction.These abnormalities can lead to infertility and abnormal function of organs. So prenatal diagnosis should be implemented to reduce the birth defects.