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本文联合应用Q、G、C、R显带技术以及Brdu—Hoechst 33258姊妹染色单体交换技术对一个原发性闭经的单纯性性腺不育的妇女作了细胞遗传学研究。该病人首次发现在1974年,17岁时由于原发性闭经来就诊,其原来的病史不清楚。她的两个弟弟正常。全家人的血型检查见表1。18岁时身高158厘米,体重55公斤,外表为一青春期妇女。没有检查出Turner氏综合征的典型的身体异常。具有腺体可触及的轻微的乳房发育,但乳头是婴儿型的。阴毛稀少。外生殖器婴儿型,阴道狭窄但长度正
In this study, a combination of Q, G, C, R banding techniques and Brdu-Hoechst 33258 sister chromatid exchange technique was used to study the cytogenetics of a woman with primary amenorrhea with gonadal infertility. For the first time, the patient was diagnosed with primary amenorrhea at 17 years of age in 1974, and his original medical history was unclear. Her two brothers are normal. The whole family’s blood test is shown in Table 1. At the age of 18, 158 cm tall and weighing 55 kg, the appearance of a puberty woman. Typical physical anomalies of Turner’s syndrome were not detected. Mild mammary development with glandular touches, but nipples are infant type. Few pubic hair. External genitalia baby type, vaginal stenosis but length is positive