Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Down Syndrome

  • Luke A. Wall
  • Regina M. ZambranoEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_190-1

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.

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 respiratory tract...

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References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Clinical Genetics, Department of PediatricsLouisiana State University Health Science CenterNew OrleansUSA
  2. 2.Louisiana State University Health Science CenterNew OrleansUSA

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA