Alpha1-antitrypsin phenotypes in sex chromosome mosaicism.

Abstract
The .alpha.1-antitrypsin phenotypes of 21 patients with sex chromosome mosaicism and their parents are reported. The proportion of heterozygotes in the group of parents is signficantly greater (P < 0.01) than that proportion in both control groups. The maternal or paternal contribution to the statistical signficance of this observation cannot be distinguished in our small sample of families.