Abstract
THERE have been two reports1,2 of an association of alpha-l antitrypsin (α1AT) variants and sex chromosome mosaicism. The data suggest that decreased α1AT activity, as found in individuals heterozygous or homozygous for α1AT variants, gives rise to abnormal chromosome segregation during mitosis. We report here further data which support those previous studies and suggest that decreased α1AT activity is also an aetiological factor in trisomy 21.
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FINEMAN, R., KIDD, K., JOHNSON, A. et al. Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21. Nature 260, 320–321 (1976). https://doi.org/10.1038/260320a0
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DOI: https://doi.org/10.1038/260320a0
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