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患者女性表现,27岁,因继发性闭经伴不孕就诊。体检:身高150cm,体重44kg,智力中等,双乳房发育欠佳,心肺正常,腋毛、阴毛缺如,子宫发育差。细胞遗传学检查:取外周血淋巴细胞培养常规制备染色体标本,经GTG显带,计数60个分裂相,分析6个核型。染色体数目为46条,但少了1条正常X染色体,多了1条近似X长臂等臂染色体。镜下分析,确定为衍生X染色体,核型为46,X,-X,+der(X)(X;X)(qter→q2205::q1305→qter)。
Female patient performance, 27 years old, due to secondary amenorrhea with infertility treatment. Physical examination: height 150cm, weight 44kg, moderate intelligence, poor development of double breasts, normal heart and lung, armpit hair, pubic hair missing, poor uterine development. Cytogenetic examination: Peripheral blood lymphocyte culture routine preparation of chromosome specimens, GTG banding, counting 60 split phase, analysis of 6 karyotype. The number of chromosomes is 46, but one normal X chromosome is missing, and one more arm chromosome is similar to X long arm. Microscopic analysis identified a derivative X chromosome with a karyotype of 46, X, -X, + der (X) (X; X) (qter → q2205 :: q1305 → qter).