Frequently Asked Questions

  1. What is Down Syndrome?
  2. Why does Down Syndrome occur?

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    What is Down Syndrome?

    Down syndrome, known commonly (although not always) as Trisomy 21, is a chromosomal disorder that is believed to occur at conception. As the result of and extra, or “copied” chromosome that the developing fetus possesses, the child with Down syndrome is born with a combination of physical, medical, and cognitive disorders which vary in severity from case to case. Included in these congenital anomalies are differences in stature, facial characteristics, and muscle tone as physical traits; increased incidence of heart defects, gastrointestinal problems, immunodeficiency problems, and vision and hearing problems are common medical problems; and mental retardation ranging from almost undetectable to profound is the result of the cognitive impairment associated with the syndrome.

    Once known as Mongoloidism, and later Down’s syndrome, the name of the condition was changed in the 1970s to remove the possessive quality of the condition’s moniker. The name Down’s syndrome, however, is still used in the United Kingdom, and in some other countries in Europe. People searching for complete information about Down syndrome may want to search under both names.

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    Why does Down Syndrome occur?

    Down Syndrome is the result of an extra copy of chromosome 21. There are 23 sets of chromosomes in the average, healthy, “normal” person, with two chromosomes present per set. Therefore, people with Down syndrome have three chromosomes 21, and forty-seven chromosomes in total, as opposed to the forty-six found in most people.

    This extra, or “copied” chromosome in people with Down syndrome is caused by one of three chromosomal phenomenon. These abnormalities are called non-disjunction, mosaicism, and translocation. Depending on the type of Down syndrome a person has, the extra chromosome may be found in all of his or her cells, or only in some, however all people with Down syndrome will have some occurrence of the extra chromosome 21.


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