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本文报道了同时运用数种显带方法显示了一种迄今从未见过的X染色体的结构异常。女病人18岁,是一例纯性腺发育不全,原发性闭经。躯体上并无Turner综合征的典型异常。乳房稍有发育,阴毛稀少,外生殖器婴儿型,阴道狭窄而深度正常,子宫的长度约2厘米。腹腔镜检查表明,右侧卵巢为浅色条索所代替,而左侧未见到类似于性腺的结构。用于本研究的显带技术有:G—带,C—带,Q—带和R—带,还作了晚复制分析。
We report the simultaneous use of several banding methods to show a structural aberration of the X chromosome that we have never seen before. Female patient 18 years old, is a case of pure gonadal dysgenesis, primary amenorrhea. There is no typical anomaly of Turner’s syndrome in the body. Breast slightly developed pubic hair scarce genitalia baby type, vaginal narrow and normal depth, the length of the uterus about 2 cm. Laparoscopy revealed that the right ovary was replaced by a light-colored cord, while no gonadal-like structure was seen on the left. The banding techniques used in this study were G-banding, C-banding, Q-banding and R-banding, as well as late copy analysis.