具有46,XX/46,XY双精子嵌合体的单侧真两性畸形。
Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.
作者信息
Farag T I, Al-Awadi S A, Tippett P, el-Sayed M, Sundareshan T S, Al-Othman S A, el-Badramany M H
机构信息
Kuwait Medical Genetics Centre.
出版信息
J Med Genet. 1987 Dec;24(12):784-6. doi: 10.1136/jmg.24.12.784.
A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46,XX/46,XY karyotype. Histopathology of the gonads confirmed true hermaphroditism. The presence of two genetically different erythrocyte populations was observed. The findings suggested that the patient is a true hermaphrodite dispermic chimera.
一名13岁女性，表现为外生殖器模糊、右侧腹股沟卵睾、左侧卵巢、苗勒氏系统外观正常、沃尔夫氏系统缺如。培养的淋巴细胞显示核型为46,XX/46,XY。性腺的组织病理学证实为真两性畸形。观察到存在两种基因不同的红细胞群体。这些发现提示该患者是一个真两性畸形双精嵌合体。
Zotero 插件