Kueppers F, O'Brien P, Passarge E, Rüdiger H W
J Med Genet. 1975 Sep;12(3):263-4. doi: 10.1136/jmg.12.3.263.
We report the alpha1-antitrypsin phenotypes of 21 patients with sex chromosome mosaicism and their parents. The proportion of heterozygotes in the group of parents is significantly greater (p less than 0.01) than that proportion in both control groups. The maternal or paternal contribution to the statistical significance of this observation cannot be distinguished in our small sample of families.
我们报告了21例性染色体嵌合体患者及其父母的α1-抗胰蛋白酶表型。父母组中杂合子的比例显著高于两个对照组中的比例(p<0.01)。在我们这个小家庭样本中,无法区分母方或父方对这一观察结果统计学显著性的贡献。