Rosenberg C, Frota-Pessoa O, Vianna-Morgante A M, Chu T H
Am J Med Genet. 1987 Jul;27(3):553-9. doi: 10.1002/ajmg.1320270308.
We report on five patients with 45,X/46,XY mosaicism. In these subjects, as well as in 58 individuals from the literature with a similar chromosome constitution, we did not find a preponderance of 46,XY cells among patients showing ambiguous to abnormal male external genitalia when compared to those patients with slight or no virilization. However, the average frequency of 46,XY cells in blood in these mosaic individuals suggests that this sample includes mainly individuals whose mosaicism originated early in embryonic cell division. Those individuals whose mosaicism originated later are not significantly represented in this sample and would have higher frequencies of 46,XY cells. These individuals would be excluded from an intersex sample if they had well-virilized genitalia. This ascertainment bias suggests that the degree of virilization depends on the frequency of 46,XY cells.
我们报告了5例45,X/46,XY嵌合体患者。在这些患者以及文献中58例具有相似染色体构成的个体中，与那些仅有轻微男性化或无男性化表现的患者相比，在具有模糊至异常男性外生殖器的患者中，我们并未发现46,XY细胞占优势。然而，这些嵌合体个体血液中46,XY细胞的平均频率表明，该样本主要包括那些嵌合体起源于胚胎细胞分裂早期的个体。那些嵌合体起源较晚的个体在该样本中所占比例并不显著，且其46,XY细胞频率会更高。如果这些个体具有充分男性化的生殖器，则会被排除在两性畸形样本之外。这种确定偏倚表明男性化程度取决于46,XY细胞的频率。
