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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Down syndrome

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* Not a rare disease
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Other Names for this Disease

  • Down's syndrome
  • Trisomy 21
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My second daughter, age one year, is affected by Trisomy 21 (Down syndrome). The doctors here say that there is no cure for Down syndrome. Can't the extra chromosome be delinked from other cells? Can't the extra chromosome be deactivated? Please help us, if there is any cure for Down syndrome.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are chromosomes?

Chromosomes are the structures that hold our DNA. Our DNA contains the instructions, called genes, that tells our bodies how to develop and function. In each human cell, except the egg and sperm cells, there are 46 chromosomes. Our chromosomes come in pairs. One of each pair is inherited from the mother and the other from the father. Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.” The short arm of the chromosome is labeled the “p arm.” The long arm of the chromosome is labeled the “q arm.” Click here to view an illustration of a chromosome and DNA.

More information on chromosomes is available from Genetics Home Reference.
Last updated: 4/16/2010

What is a chromosome anomaly?

A chromosomal anomaly occurs when an individual is affected by a change in the number, size, or structure of his or her chromosomes. The change in the amount or arrangement of the genetic information in the cells may result in problems in growth, development, and/or functioning of the body systems.

You can find additional information on chromosome anomalies in general at the following Web sites.

The National Human Genome Research Institute, part of the National Institutes of Health (NIH), has developed a fact sheet on chromosome abnormalities, which may be helpful to you. To read this information, visit the link below.
http://www.genome.gov/11508982

MEDLINEplus, the National Library of Medicine Web site designed to direct you to information and resources that help you research your health questions, provides further information about chromosomes at the following link:
http://www.nlm.nih.gov/medlineplus/ency/article/002327.htm

Last updated: 6/8/2012

How might Down syndrome be treated?

Early intervention services, quality educational programs, a stimulating home environment, good health care, and positive support from family and friends can help individuals with Down syndrome develop to their full potential.[1] The overall objective of treatment is to boost cognition by improving learning, memory, and speech. Scientific advances have made it possible to understand how specific genes are linked to specific abnormalities in the structure and function of the brain. Although there are hundreds of genes on chromosome 21, researchers believe it likely that only a handful significantly impact cognition. Many researchers now believe that it will be possible to isolate the effects of these specific genes and determine how their expression in the brain can cause problems with cognition. As researchers gain a better understanding of these mechanisms, they can begin the process of discovering treatments that enhance brain function.[2]   

Visit the GARD Services tab above to find resources that provide a list of specialty centers located across the U.S and internationally for individuals with Down syndrome.
Last updated: 6/8/2012

Is there a cure for Down syndrome?

There is no cure for Down syndrome.[2][3] Once a baby is born with Down syndrome, the extra twenty-first chromosome will always be present. There is no way to remove or deactivate it. However, researchers have identified several genes that cause the characteristics of Down syndrome. Many believe that it will be possible to improve, correct or even prevent many of the problems associated with Down syndrome in the future.[1][2]
Last updated: 3/9/2012

References
Other Names for this Disease
  • Down's syndrome
  • Trisomy 21
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.