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目的探讨Turner综合征(TS)不同核型的遗传学特征、临床特点及其所占比例。方法成人外周血染色体核型分析,高危孕妇羊水染色体核型分析。结果成人外周血检测发现TS 75例,羊水检测发现TS 3例。78例患者中,45,XO 32例(41%),45,XO/46,XX嵌合型10例(12.8%),45,XO/46,XX/47,XXX嵌合型2例(2.6%),45,XO/47,XXX嵌合型4例(5.1%),46,X,i(X)4例(5.1%),45,XO/46,X,i(X)嵌合型9例(11.5%),46,X,del(Xp-)7例(9.0%),46,X,del(Xq-)7例(9.0%),45,XO/46,X,del(Xp11)嵌合型2例(2.6%),45,XO/46,X,del(Xq21)嵌合型1例(1.3%)。结论 TS核型主要包括X单体型,X单体嵌合型和结构畸变型及其嵌合型三种,45,XO的X单体型为本综合症的主要类型;不同核型患者临床表现可存在差异;对有相关临床表现的女孩争取做到早诊断,早治疗;对部分具有一定生育能力的TS患者做好产前诊断,做到优生优育。
Objective To investigate the genetic characteristics, clinical characteristics and their proportion of different karyotypes in Turner syndrome (TS). Methods Chromosome karyotype analysis of adult peripheral blood and amniotic fluid karyotype analysis of high risk pregnant women. Results 75 cases of TS were found in adult peripheral blood and 3 cases of TS were found in amniotic fluid. Among the 78 patients, 32 (41%) were 45, XO / 46, and XX, 45 4, 5.1%), 45, XO / 46, X, i (X) chimeric Nine patients (9.0%), 46 patients with X, del (Xp-), 46 patients with X, del (Xp) ) In 2 cases (2.6%), and 45 cases in XO / 46, X, del (Xq21). Conclusions The TS karyotypes mainly include X haplotype, X monomeric chimerism and structural aberration and its chimeric type. The X haplotypes of 45 and XO are the main types of this syndrome. The clinical manifestations of different karyotypes There may be differences in performance; for girls with relevant clinical performance for early diagnosis and early treatment; part of a certain fertility of TS patients prenatal diagnosis, so that prenatal and postnatal care.