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Down Syndrome

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Definition

Down syndrome results from a trisomy of the 21st chromosome. The syndrome encompasses a recognizable, yet highly variable, pattern of clinical features including abnormal facies, intellectual disability, and involvement of multiple organ systems.

Introduction

Down syndrome (DS) is the most common chromosome aneuploidy. According to the Centers for Disease Control and Prevention, approximately 1 in every 700 babies in the United States is born with Down syndrome (Parker et al. 2010). This is a recognizable disorder with variable phenotype and clinical features in multiple organ systems. The majority of patients present with intellectual disability and findings in the cardiovascular (CV), gastrointestinal (GI), neurologic, endocrinologic, hematologic, orthopedic, and immunologic systems are typically described.

Patients with DS have increased susceptibility to infections. Otitis media is one of the most frequently encountered health problems. Bacterial sinusitis and lower...

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References

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Correspondence to Regina M. Zambrano .

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Wall, L.A., Zambrano, R.M. (2019). Down Syndrome. In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_190-2

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  • DOI: https://doi.org/10.1007/978-1-4614-9209-2_190-2

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-9209-2

  • Online ISBN: 978-1-4614-9209-2

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Chapter history

  1. Latest

    Down Syndrome
    Published:
    30 May 2019

    DOI: https://doi.org/10.1007/978-1-4614-9209-2_190-2

  2. Original

    Down Syndrome
    Published:
    12 December 2018

    DOI: https://doi.org/10.1007/978-1-4614-9209-2_190-1