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530777 一例罕见的45,X/46,Xr(Y)嵌合体周宏远等遗传与疾病2(3):193～194. 1985患者13岁,社会性别女。发育差,外生殖器呈两性表型。血浆睾丸酮低于男性水平,阴道子宫碘油造影示男性骨盆,狭小子宫。剖腹未见卵巢,有子宫及发育不良之睾丸及附睾和淋巴结反应增生。细胞遗传核型分析为45,X/46,Xr(Y)。Y 环染色体的形成是由于Y 染色体两臂(p、q)的两端发生断裂,有着
530777 A case of rare 45, X / 46, Xr (Y) chimera Zhou Hongyuan and other genetic and disease 2 (3): 193 ~ 194. 1985 Patient 13 years old, female gender. Poor development, external genitalia was phenotypic. Plasma testosterone below the male level, vaginal uterine iodine oil imaging showed male pelvis, narrow uterus. No laparotomy ovaries, uterine and hypoplastic testicles and epididymis and lymph node reaction hyperplasia. Cytogenetic karyotype analysis was 45, X / 46, Xr (Y). The formation of the Y-ring chromosome is due to the cleavage of both ends of the Y chromosome (p, q)