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本文报导了一例间性体男孩,他的外阴部形态奇特,尤其是阴茎基部之下方有一袋状物,很似女性之阴道。这可能是问性体中的一个新类型,暂时定名为“男性间性体”。患者兼有Down综合症的部分征状。在两次外周血液白细胞培养物中,均发现有相当高比率的四倍体细胞(分别为13.6%和6%);在骨髓直接制片标本中,四倍体细胞的比率更高,达20%。它们的染色体粗成为4A+XXYY型。在白细胞标本中还有另二类细胞,即2n=46(XY)和2n=47(G-三体+XY)。在所检查的骨髓一倍体细胞中,均表明为2n=46,XY型,但是Y染色体显得特别长大。核性别鉴定为阴性。根据确定嵌合体的标准,认为这是一例具有46(XY)/47(G-三体+XY)/92(XXYY)核型的三重嵌合体。文中较详细地讨论了上述发现的意义以及有关的问题。
This article reports an example of an intersex boy who has a peculiar shape in his genitals, especially a pouch beneath the base of the penis, resembling a woman’s vagina. This may be a new type of questioning body, tentatively named as “inter-male body.” Patients have both Symptoms of Down Syndrome. In both peripheral blood leukocyte cultures, a significant proportion of tetraploid cells (13.6% and 6%, respectively) were found; in the direct bone marrow preparation, tetraploid cells were found at higher rates of 20 %. Their chromosomes become 4A + XXYY. There are other types of cells in the leukocyte specimen, namely 2n = 46 (XY) and 2n = 47 (G-trisomy + XY). In the examined bone marrow diploid cells both showed 2n = 46, XY-type, but the Y-chromosome appeared particularly enlarged. Nuclear gender identification as negative. Based on the criteria for determining the chimera, this is considered to be an example of a triple chimera having a 46 (XY) / 47 (G-trisomy + XY) / 92 (XXYY) karyotype. The significance of the above findings and the related issues are discussed in more detail in the article.