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Increased frequency of heterozygotes for α1 antitrypsin variants in individuals with either sex chromosome mosaicism or trisomy 21

Nature volume 260, pages 320–321 (1976)Cite this article

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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Authors and Affiliations

  1. Department of Human Genetics and Pediatrics, Yale University School of Medicine, New Haven, Connecticut, 06510

    ROBERT M. FINEMAN

  2. Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut, 06510

    KENNETH K. KIDD

  3. Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, 27514

    A. MYRON JOHNSON

  4. Department of Human Genetics and Pediatrics, Yale University School of Medicine and Southbury Training School, Southbury, Connecticut, 06488

    W. ROY BREG

Authors
  1. ROBERT M. FINEMAN
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  2. KENNETH K. KIDD
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  3. A. MYRON JOHNSON
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  4. W. ROY BREG
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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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