96例Turner综合征患者临床特征及染色体分析

Cytogenetic diagnosis study of 96 cases of Turner syndrome

目的 Turner综合征患者身材矮小伴不同程度的性腺发育不全,探讨Turner综合征不同核型的遗传学特征、临床特点及其所占比例。方法无菌取患者外周血,淋巴细胞常规培养制作染色体标本,胰酶法G显带,显微镜下进行染色体核型分析。结果 96例Turner综合征患者的染色体核型为:45,X,39例(40.6%);45,X/46,XX 21例(21.9%);46,XY 11例(11.5%);46,Xi(Xq)10例(10.4%);46,X,del(X)(q22→qter)6例(6.3%);45,X/46,Xi(X)(q10;q10)3例(3.1%);47,XXX 3例(3.1%);45,X/46,X,del(X)(p22→pter)2例(2.1%);45,X/46,X,r(X)(p22q28)1例(1.04%)。结论 Turner综合征患者的染色体有数目异常和结构畸变等多种核型,均可不同程度导致女性闭经、性腺发育异常及智力低下等症状,应提倡优生优育,做好产前诊断。

Objective ： Turner syndrome has various clinical manifestations of gonadal disgensis. To analyze the association between various chromosome karyotypes of Turner syndrome and their clinic character isties. Methods ： The chromosomal karyotypes were exam- ined in patients by periphery blood lymphocyte culture and G banding. Results： Chromosomal karyotype of 96 cases Turner syndrome cases were45, X, （39 cases, 40.6%） ; 45, X/46, XX （21 cases, 21.9%） ; 46, XY （11 cases, 11.5%）; 46, Xi （Xq） （10cases, 10.4%） ; 46, X, del （X） （q22---＊qter） （6cases, 6.3%）; 45, X/46, Xi （X） （ql0; ql0） （3cases, 3.1%）; 47, XXX （3cases, 3.1%）; 45, X/46, X, del （X） （p22--.pter）） （2 cases, 2. 1%）; 45, X/46, X, r （X） （p22q28） （1 cases, 1.04% ）. Conclusion： Structural aberrations and number abnormalities were the major abnormal karyotypes in patients of Turner syndrome, which were the important factor for incidence of amenorrhea, gonad dysplastie, mental retardation and so on. Appropriate techniques should be used to screen fetal chromosomes during gestation weeks in high - risk pregnant women.