title: Distribution of alpha 1-antitrypsin (PI) phenotypes in chromosome abnormalities.
abstract: PI phenotypes (including subtypes) were determined for 168 individuals with chromosomal abnormalities ascertained in Adelaide. These included patients with mosaicism, trisomy 21, trisomy 13, trisomy 18, and various sex chromosome aberrations (45,X, 47,XXX, 47,XXY, 47, XYY, and 48,XXXY). Data did not support an existing proposition that mildly deficient PI phenotypes predispose to abnormal chromosome segregation during mitosis of meiosis. Phenotypic distributions of each group were statistically similar to control populations of cord bloods and bloods donors.
mesh_terms: D000483:Alleles; D002869:Chromosome Aberrations / Q000201:enzymology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002877:Chromosomes, Human; D005787:Gene Frequency; D006801:Humans; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin