Stephen J. Schueler, M.D.

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Trisomy 21 Overview

Another name for Trisomy 21 is Down's Syndrome.

What is Down's syndrome?
A person with Down's syndrome has an extra copy of one of the chromosomes, which results in mental retardation, as well as other symptoms. Chromosomes contain genetic material that directs the actions of cells. Normally, human cells have 23 pairs of chromosomes, resulting in 46 chromosomes. One of each pair comes from the mother, and one of each pair comes from the father. Down's syndrome describes the symptoms and signs displayed by someone who has an extra 21st chromosome, which results in 47 total chromosomes. In the US, about 1 out of 1,000 infants is born with Down's syndrome.

What are the symptoms of Down's syndrome?
Symptoms of Down's syndrome may include small head for size, flattened nose, large tongue, slanted eyes, growth retardation, mental retardation, shorter than average height, vision problems, hearing loss, and symptoms of heart disease.

How does the doctor treat Down's syndrome?
There is no cure for Down's syndrome. Treatment for Down's syndrome may include: social services, special education, and the treatment of deafness and underlying heart disease.

Continue to Trisomy 21 Incidence

Last Updated: Feb 8, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Trisomy 21 References
  1. Bahado-Singh RO, Sutton-Riley J. Biochemical screening for congenital defects. Obstet Gynecol Clin North Am. 2004 Dec;31(4):857-72, xi. [15550339]
  2. Matias A, Montenegro N, Blickstein I. Down syndrome screening in multiple pregnancies. Obstet Gynecol Clin North Am. 2005 Mar;32(1):81-96, ix. [15644291]
  3. Taub JW, Ge Y. Down syndrome, drug metabolism and chromosome 21. Pediatr Blood Cancer. 2005 Jan;44(1):33-9. [15390307]
  4. Tyler C, Edman JC. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span. Prim Care. 2004 Sep;31(3):627-48, x-xi. [15331252]
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