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What is Down Syndrome?

Down Syndrome affect

Down Syndrome affects one in every 691 babies born in the U.S. every year.

One in every 691 babies born in the United States is born with Down Syndrome. It is one of the most common genetic conditions and affects approximately 400,000 Americans and about 6,000 babies each year. But how does it affect the individual who has it and what causes this syndrome? Read on to find out!

The Biology of Down Syndrome

At the heart of every human cell, you will find the nucleus. The nucleus is the data center for every part of your body and it contains the genes where your genetic material is stored. Genes carry the codes responsible for our inherited traits which are grouped together in rod-like structures called the chromosomes. The typical nucleus contains 23 pairs of chromosomes. Half of these chromosomes are inherited from each of your parents. But some people have an extra full or partial copy of chromosome 21. This additional genetic material alters the development of the individual and causes the characteristics associated with Down syndrome.

The Characteristics

While these characteristics are evident in some children, not every child with down syndrome experiences all of them. The most common features associated with Down syndrome include:
  • Flat facial features with a small nose
  • Low muscle tone
  • Upward slant to the eyes
  • Small, abnormally shaped ears
  • Single, deep crease across the center of the palm
  • Hyper-flexibility or the excessive ability to extend the joints
  • The fifth finger has only one flexion furrow instead of two
  • Extra space between the big and second toe
  • Enlarged tongue that commonly sticks out
Each person with Down syndrome is unique and may possess some of these characteristics to some degree while others may only have one or two of them.

The Three Types of Down Syndrome

Just as there are different characteristics of Down syndrome, there are actually three different types: trisomy 21 or nondisjunction, translocation, and mosaicism.
  • Trisomy 21- this type of Down syndrome is usually created by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of the 21st chromosome instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fail to separate. As the embryo develops, the extra chromosome is replicated in every cell. This type of Down syndrome accounts for 95 percent of cases.
  • Translocation- this type of Down syndrome accounts for about four percent of cases. With this type of Down syndrome, the number of chromosomes actually remains at the usual number of 46. But an additional full or partial copy of chromosome 21 attaches itself to another chromosome causing the characteristics of Down syndrome.
  • Mosaicism- this type of Down syndrome is diagnosed when there is a mixture of two types of cells in the body. Some of these cells contain the typical 46 chromosomes while others contain 47. Mosaicism is the least common form of Down syndrome and only accounts for about one percent of all cases. People with mosaic Down syndrome may have few characteristic of Down syndrome.
There are many different types and characteristics of Down syndrome. Each person living with Down syndrome is different and needs unique care. For more information on caring for your loved one with Down syndrome, call Family Services Foundation today!

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Family Service Foundation, Inc. has been serving the greater Maryland area since 1936. This nonprofit organization helps Maryland residents across a span of different areas such as mental health, developmental disabilities, and substance abuse, and provides interpretation for deaf and deaf-blind individuals. To learn more about autism spectrum disorder or developmental disabilitiesvisit here. Do you “Follow” and “Like?” Be sure to stay active on our official pages on FacebookTwitterGoogle+, and Pinterest today!