45，XO／46，X，i（Xq）嵌合型Turner综合征1例报告  

One case or turner syndrome or 45, XO/46, Xi(Xq)gynandromorph

作　　者：邹玉兰[1] 龙卓君[1] 张文勤[1] 孙丽[1] 

机构地区：[1]沈阳市计划生育科研所

出　　处：《中国优生与遗传杂志》1995年第1期48-48,28,共2页Chinese Journal of Birth Health & Heredity

摘　　要：４５，ＸＯ／４６，Ｘ，ｉ（Ｘｑ）嵌合型Ｔｕｒｎｅｒ综合征１例报告沈阳市计划生育科研所（１１００１５）邹玉兰，龙卓君，张文勤，孙丽Ｏｎｅｃａｓｅｏｒｔｕｒｎｅｒｓｙｎｄｒｏｍｅｏｒ４５，ＸＯ／４６，Ｘｉ（Ｘｑ）ｇｙｎａｎｄｒｏｍｏｒｐｈ￥ＺｏｕＹｕ－ｌ...This paper reports the patient is malate, 27 old, 127cm high, 26kg weight,inborn amenorrhoea, the hair back edge is lower, her neck is shorter,her breast does not grow; the distence of breasts is broader; no armpit hair; both elbows bend outwards.The examination of gynaecology:The vulva development stops in childish;no pubes; the hymen is whole;the vagina is 3 cm long; the uterus is like finger nail size. The chemical test: there is 11. 4mg 17- OH CH and 23mg 17KS in 24 hours urine. The cytogeneties test: l. The chromatin examination was made in the epithelial cells of the oral mucous memberance. By accounting 100 cells, sexchromatin is 17 percent, big and clear.2.G-band examination is 45,XO and 46,Xi (Xq) gynandromorph; both proportion 151:9.

关 键 词：嵌合型 TURNER综合征 患者 先天异常 原发性闭经 矮小 先天性卵巢发育不全 体形 描述 染色体核型 

分 类 号：R711.75[医药卫生—妇产科学] R596[医药卫生—临床医学]