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28例原发闭经患者经GTG核型分析,其中46,XX者10例,45,XO者9例,45,XO/46,XY者2例,45,X/47,XYY者1例,46,X,i(Xq)者3例,45,X/46,X,i(Xq)者1例,45,X/46,XXr者1例及46,XY睾丸女性化1例。染色体数目及结构异常皆属于Turner综合征,她们大多数有体矮,外阴幼稚型,第二性征发育差等体征。一例45,X/47,XYY已剖腹探查具两种性服亦属两性畸形。一例环状染色体为Xp~-,部分枝型分析为45,X/46,X,r(X)(p~(11)q~(28))。此外,本文对X染色体异常导致原闭及其对临床表型影响作了讨论。
28 cases of primary amenorrhea patients by GTG karyotype analysis, of which 46, XX in 10 cases, 45, XO in 9 cases, 45, XO / 46, XY in 2 cases, 45, X / 47, XYY in 1 case, 46 , 1 case of 45, X / 46, X, i (Xq), 1 case of 45, X / 46, XXr and 46 cases of XY testicular feminization. Chromosome number and structural abnormalities are Turner syndrome, most of them are short, vulva vulva, secondary sexual characteristics such as poor development. An example 45, X / 47, XYY laparotomy with two sexual services also belong to hermaphroditism. One case of circular chromosome Xp ~ -, part of the branch analysis of 45, X / 46, X, r (X) (p ~ (11) q ~ (28)). In addition, this article discusses the abnormality caused by X chromosome and its influence on clinical phenotype.