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本文报道127例Turner综合征,其染色体核型分析属14种不同类型,可分为5组:45,X(30.7％);45,X/46,XX(32.3％);45,XO/47,XXX(3.1％);X染色体结构畸形(29.1％);伴有嵌合的Y染色体(4.9％)。其中X染色体结构畸形有46,X,i(Xq)16例;45,XO/46,X,i(Xq)7例;46,XX/46,X,i(Xq)和46,X,del(Xq)各3例;46,X,del(Xq)/45,XO;46,X,del(Xp)和46,XX/46,X,del(Xp)各2例;46,XX/47,XX,del(Xq)/46,X,del(Xq)和45,X/46,X,r(X)各1例;伴有Y染色体核型有45,XO/46,XY4例;46,XX/45,X/46,XY2例。本文对照分析了Turner综合征的核型与表型的关系。最后介绍了7例生长激素激发试验的结果。
This paper reports 127 cases of Turner syndrome, the chromosome karyotype analysis belong to 14 different types, can be divided into 5 groups: 45, X (30.7%); 45, X / 46, XX , XXX (3.1%); X chromosome structural abnormalities (29.1%); with chimeric Y chromosome (4.9%). Among them, X chromosome structural abnormalities were 46, X, i (Xq), 16 cases; 45, XO / 46, X, (Xq) 3 cases in each; 46, X, del (Xq) / 45, XO; 46, X, del (Xp) and 46, XX / 46, X, del 1 in each of X, Y, X, X, X, X, X (r) and X (Xq) / 46, X, , XX / 45, X / 46, XY2 cases. In this paper, the relationship between karyotype and phenotype of Turner’s syndrome was analyzed. Finally, the results of seven cases of growth hormone provocation test are introduced.