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ISSN: 2472-1115

Journal of Down Syndrome & Chromosome Abnormalities
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Review Article

Beyond Trisomy 21: Phenotypic Variability in People with Down Syndrome Explained by Further Chromosome Mis-segregation and Mosaic Aneuploidy

Huntington Potter*

Department of Neurology, and Linda Crnic Institute for Down Syndrome, Rocky Mountain Alzheimer’s Disease Center, University of Colorado Anschutz Medical Center, USA

Corresponding Author:
Huntington Potter
Department of Neurology, and Linda Crnic Institute for Down Syndrome
Rocky Mountain Alzheimer’s Disease Center
University of Colorado Anschutz Medical Center, USA
Tel: 303-724-7385
E-mail: [email protected]

Received date: March 01, 2016; Accepted date: March 24, 2016; Published date: March 31, 2016

Citation: Potter H (2016) Beyond Trisomy 21: Phenotypic Variability in People with Down Syndrome Explained by Further Chromosome Mis-segregation and Mosaic Aneuploidy. J Down Syndr Chr Abnorm 2:109. doi:10.4172/2472-1115.1000109

Copyright: © 2016 Potter H. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Phenotypic variability is a fundamental feature of the human population and is particularly evident among people with Down syndrome and/or Alzheimer’s disease. Herein, we review current theories of the potential origins of this phenotypic variability and propose a novel mechanism based on our finding that the Alzheimer’s disease-associated Aβ peptide, encoded on chromosome 21, disrupts the mitotic spindle, induces abnormal chromosome segregation, and produces mosaic populations of aneuploid cells in all tissues of people with Alzheimer’s disease and in mouse and cell models thereof. Thus, individuals exposed to increased levels of the Aβ peptide should accumulate mosaic populations of aneuploid cells, with different chromosomes affected in different tissues and in different individuals. Specifically, people with Down syndrome, who express elevated levels of Aβ peptide throughout their lifetimes, would be predicted to accumulate additional types of aneuploidy, beyond trisomy 21 and including changes in their trisomy 21 status, in mosaic cell populations. Such mosaic aneuploidy would introduce a novel form of genetic variability that could potentially underlie much of the observed phenotypic variability among people with Down syndrome, and possibly also among people with Alzheimer’s disease. This mosaic aneuploidy theory of phenotypic variability in Down syndrome is supported by several observations, makes several testable predictions, and identifies a potential approach to reducing the frequency of some of the most debilitating features of Down syndrome, including Alzheimer’s disease.


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