Nazareth H R, Moreira-Filho C A, Cunha A J, Vieira-Filho J P, Lengyel A M, Lima M C
Am J Med Genet. 1979;3(2):149-54. doi: 10.1002/ajmg.1320030206.
Clinical, cytogenetic, pathologic, and histocompatibility-Y (H-Y) antigen studies were performed on a phenotype female with primary amenorrhea and streak gonads. Pathological examination of tissues removed at total hysterectomy and bilateral salpinog-gonadectomy showed gonadoblastoma and dysgerminoma of left streak. A single F-body (Y chromosome) was found in buccal smears. Analysis of blood cells and tumor fibroblasts showed a 46,XY chromosome constitution (Q-banding). The data were consistent with a diagnosis of 46,XY pure testicular dysgenesis. Positive results for H-Y antigen were found in this case.
对一名原发性闭经且性腺呈条索状的表型女性进行了临床、细胞遗传学、病理学和组织相容性-Y(H-Y)抗原研究。全子宫切除术和双侧输卵管卵巢切除术切除组织的病理检查显示左侧条索状性腺存在性腺母细胞瘤和无性细胞瘤。在颊黏膜涂片检查中发现一个F小体(Y染色体)。血细胞和肿瘤成纤维细胞分析显示染色体组成为46,XY(Q显带)。这些数据与46,XY单纯性睾丸发育不全的诊断相符。此病例中H-Y抗原检测结果为阳性。