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Aneuploidy and Skeletal Health

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Abstract

The normal human chromosome complement consists of 46 chromosomes comprising 22 morphologically different pairs of autosomes and one pair of sex chromosomes. Variations in either chromosome number and/or structure frequently result in significant mental impairment and/or a variety of other clinical problems, among them, altered bone mass and strength. Chromosomal syndromes associated with specific chromosomal abnormalities are classified as either numerical or structural and may involve more than one chromosome. Aneuploidy refers to the presence of an extra copy of a specific chromosome, or trisomy, as seen in Down’s syndrome (trisomy 21), or the absence of a single chromosome, or monosomy, as seen in Turner syndrome (a single X chromosome in females: 45, X). Aneuploidies have diverse phenotypic consequences, ranging from severe mental retardation and developmental abnormalities to increased susceptibility to various neoplasms and premature death. In fact, trisomy 21 is the prototypical aneuploidy in humans, is the most common genetic abnormality associated with longevity, and is one of the most widespread genetic causes of intellectual disability. In this review, the impact of trisomy 21 on the bone mass, architecture, skeletal health, and quality of life of people with Down syndrome will be discussed.

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Acknowledgments

This work was supported by the Carl L. Nelson Chair of Orthopaedic Creativity (LJS), the Rockefeller Chair in Clinical Genetics (KDM), and a grant from the UAMS Translational Research Institute (TRI) UL1RR029884. The authors thank M. R. Forwood of Griffith University (Australia) for his review of the manuscript.

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Conflict of Interest

A. Kamalakar, J. R. Harris, and K. D. McKelvey declare that they have no conflicts of interest. LJ Suva has received research support from the NIH.

Human and Animal Rights and Informed Consent

All studies by K. D. McKelvey and L. J. Suva involving animal and/or human subjects were performed after approval by the appropriate institutional review boards. When required, written informed consent was obtained from all participants.

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Authors and Affiliations

  1. Department of Physiology and Biophysics, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Archana Kamalakar & Larry J. Suva

  2. Department of Orthopaedic Surgery, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Archana Kamalakar, John R. Harris & Larry J. Suva

  3. Department of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR, USA

    Kent D. McKelvey

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  1. Archana Kamalakar
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Correspondence to Larry J. Suva.

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Kamalakar, A., Harris, J.R., McKelvey, K.D. et al. Aneuploidy and Skeletal Health. Curr Osteoporos Rep 12, 376–382 (2014). https://doi.org/10.1007/s11914-014-0221-4

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