Skip to main content
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1975 Sep;12(3):263–264. doi: 10.1136/jmg.12.3.263

Alpha1-antitrypsin phenotypes in sex chromosome mosaicism.

F Kueppers, P O'Brien, E Passarge, H W Rüdiger
PMCID: PMC1013286  PMID: 1080809

Abstract

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.

Full text

PDF
263

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aarskog D., Fagerhol M. K. Protease inhibitor (Pi) phenotypes in chromosome aberrations. J Med Genet. 1970 Dec;7(4):367–370. doi: 10.1136/jmg.7.4.367. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Fagerhol M. K., Laurell C. B. The Pi system-inherited variants of serum alpha 1-antitrypsin. Prog Med Genet. 1970;7:96–111. [PubMed] [Google Scholar]
  3. Fagerhol M. K. Serum Pi types in Norwegians. Acta Pathol Microbiol Scand. 1967;70(3):421–428. doi: 10.1111/j.1699-0463.1967.tb01310.x. [DOI] [PubMed] [Google Scholar]
  4. Goedde H. W., Benkmann H. G., Christ I., Singh S., Hirth L. Gene frequencies of red cell adenosine deaminase, adenylate kinase, phosphoglucomutase, acid phosphatase and serum alpha-1-Antitrypsin (Pi) in a German population. Humangenetik. 1970;10(3):235–243. doi: 10.1007/BF00295786. [DOI] [PubMed] [Google Scholar]
  5. Kueppers F. Alpha-1-antitrypsin: physiology, genetics and pathology. Humangenetik. 1971;11(3):177–189. doi: 10.1007/BF00274738. [DOI] [PubMed] [Google Scholar]
  6. Kueppers F. Immunologic assay of alpha-1-antitrypsin in deficient subjects and their families. Humangenetik. 1967 Nov 29;5(1):54–58. doi: 10.1007/BF00286211. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES