Down syndrome

Down syndrome Microchapters
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Case #1
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Trisomy 21, trisomy 21 syndrome, mongolianism, mongolism, Down's syndrome baby

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | X Ray | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies | Sociological and Cultural Aspects

Sources

• Arron, Joseph R., et al. (2006). NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature, 441: 595-599.
• Epstein, Charles J. (2006). Critical Genes in Critical Region. Nature, 441: 582-583.
• Ganong, W.J. (2005). Review of Medical Physiology. New York: Mc-Graw Hill.
• Nelson, David L., & Gibbs, Richard H. (2004). The Critical Region in Trisomy-21. Science, 306: 619-621.
• Olson, L.E., Richtsmeier J.T., & Reeves R.H. (2004). A Chromosome-21 Critical Region Does Not Cause Specific Down Syndrome Phenotypes. Science, 306: 687-690.
• Reeves, Roger H., et al. (2000). The DNA Sequence of Human Chromosome 21. Nature, 405: 311-319.
• Underwood, J.C.E. (2004). General and Systematic Pathology. Edinburgh: Churchill Livingstone.

Bibliography

• Beck, M.N. (1999). Expecting Adam. New York: Berkley Books.
• Buckley, S. (2000). Living with Down Syndrome. Portsmouth, UK: The Down Syndrome Educational Trust. ISBN 1903806011.
• Down Syndrome Research Foundation (2005). Bright Beginnings: A Guide for New Parents. Buckinghamshire, UK: Down Syndrome Research Foundation.
• Dykens EM (2007). "Psychiatric and behavioral disorders in persons with Down syndrome". Ment Retard Dev Disabil Res Rev. 13 (3): 272–8. doi:10.1002/mrdd.20159. PMID 17910080.
• Hassold, T.J., D. Patterson, eds. (1999). Down Syndrome: A Promising Future, Together. New York: Wiley Liss.
• Kingsley, J. (1994). Count Us In: Growing up with Down Syndrome. San Diego: Harcourt Brace.
• Pueschel, S.M., M. Sustrova, eds. (1997). Adolescents with Down Syndrome: Toward a More Fulfilling Life. Baltimore, MD: Paul H. Brookes.
• Selikowitz, M. (1997). Down Syndrome: The Facts (2nd edition ed.). Oxford, UK: Oxford University Press.CS1 maint: Extra text (link)
• Van Dyke, D.C. (1995). Medical and Surgical Care for Children with Down Syndrome. Bethesda, MD: Woodbine House.
• Zuckoff, M. (2002). Choosing Naia: A Family's Journey. New York: Beacon Press.

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