Down syndrome, also known as Trisomy 21, is the most common chromosomal anomaly, occurring once in every 733 births.
Language is important, and currently the most preferred choice in North America, to describe and individual with a little bit of something extra, by way of the 21st pair, is Down syndrome or Trisomy 21.
For this reason, Down syndrome and Trisomy 21 are used synonymously.
How does Trisomy 21 occur?
Trisomy 21 has no boundaries, it occurs in all races, and at all socioeconomic levels.
During normal cell development, the original cell begins to grow by dividing and duplicating itself. Sometimes, for reasons that are not yet understood, the original cell does not divide evenly.
When this extra genetic material is located at the twenty-first chromosome, it is called Trisomy 21, which is also known as Down syndrome, after John Landgon Down, an English physician who first described the condition in 1866.
Individuals with Down syndrome have all of the genetic material as everyone else does, with one exception. That is an additional portion of material at chromosome 21, and even that portion is normal—there is just more of it.
There are three major types of Down syndrome, and the most common, comprises 95% of the diagnoses.
Nondisjunction Trisomy 21, which means chromosome 21 did not disjoin from itself and divide evenly. This happens at the beginning of cell division and the extra genetic material is copied in each of his cells.
Translocation Trisomy 21, where part of the number 21 chromosome breaks off and attaches itself elsewhere, sometimes to the number 14 chromosome, or sometimes to the other number 21 chromosome.
Mosaicism, which comprises the smallest portion of diagnosis, exists when the trisomy occurs a bit later in cell division, so only some of the cells contain and perpetuate it.
There are also incidents where partial trisomies occur. In this diagnosis, only a portion of an extra 21 is replicated. The extra portion exists on every cell, but is only a fraction of extra genetic material.
Down syndrome isn't fatal. Individuals with Trisomy 21 are not suffering.
About 80% of adults with Down syndrome live to age 55 or beyond.
Individuals diagnosed with Down syndrome have varying degrees of functioning, most fall into the mild to moderate range of cognitive impairment.
Intelligence, physical ability, learning styles, and personality all vary, because of the influence of the common forty-six chromosomes in their genetic blueprint.
Individuals with Trisomy 21 are more like their family members than they are different. These individuals have a full range of feelings and emotions—just like everyone else, and they are not always happy.
Don’t limit the abilities of a person with Trisomy 21 by your misconceptions and biases. Accept them for who they are, for what they contribute to life as they are as worthy of life as anyone else is.
Emma: One who heals ~ Sage: One with great wisdom
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