Puck S M, Haseltine F P, Francke U
Hum Genet. 1981;57(1):23-7. doi: 10.1007/BF00271161.
We have studied a stillborn infant who had the clinical and radiographic characteristics of campomelic dysplasia. External and internal genitalia were those of a normal female, except for slight enlargement of the clitoris. Microscopic examination of the ovaries revealed some areas resembling immature dysgenetic testicular tissue. Karyotypes from lymphocyte and fibroblast cultures were 46,XY with a structurally normal Y chromosome and no evidence of mosaicism. H-Y antigen was not detected on the fibroblasts in repeated assays using Raji cells as target cells after absorption. The "sex- reversal" (chromosomal male Leads to phenotypic female) previously noted in patients with autosomal recessive campomelic dysplasia thus may be mediated through lack of detectable H-Y antigen on the cell surface. It appears that the mutation leading to campomelic dysplasia interferes with normal H-Y antigen expression.
我们研究了一名死产婴儿，其具有弯肢性发育异常的临床和影像学特征。除阴蒂稍有增大外，其内外生殖器均为正常女性的生殖器。卵巢的显微镜检查显示，有些区域类似于未成熟的发育不全睾丸组织。淋巴细胞和成纤维细胞培养的核型为46,XY，Y染色体结构正常，且无嵌合体证据。在使用Raji细胞作为靶细胞进行吸收后的重复检测中，未在成纤维细胞上检测到H-Y抗原。常染色体隐性弯肢性发育异常患者中先前发现的“性反转”（染色体为男性却表现为女性表型）因此可能是通过细胞表面缺乏可检测到的H-Y抗原介导的。导致弯肢性发育异常的突变似乎干扰了正常的H-Y抗原表达。
