Trisomy 21

Trisomy 21, commonly referred to as Down Syndrome, is a genetic disorder that causes

an individual to have an extra chromosome 21. Typically, people have diploid chromosomes (2

sets of chromosomes each). Individuals with Down Syndrome with an extra chromosome have

developmental and physical changes. Down syndrome varies among individuals since symptoms

may be mild, moderate or severe. It’s important to learn about Down syndrome because of how

common it is. According to CDC.gov, 1 out 700 babies in the United States are diagnosed with

Down syndrome.

First, Down syndrome can be detected by an ultrasound, screening test, and blood test.

When a fetus has fluid on the back of their neck, It could indicate down syndrome. Also, a

screening test and blood test can determine whether a baby will be diagnosed with down

syndrome at 11 to 14 weeks. In a woman’s second trimester, an ultrasound exam can detect

certain features like dilated brain ventricles, absent or small nose bone, increased thickness of the

back of the neck that relates to down syndrome. In the third trimester, screening will be

unavailable to detect down syndrome but invasive testing can be performed if a new ultrasound

finding occurred.

Second, Down syndrome is a unique genetic disorder. Every individual who is diagnosed

with the condition can have different symptoms or none at all. Some common physical

characteristics are shorter than average height, stocky arms and legs, low muscle tone, eyes that

slant upward, from inner corner to outer corner. Some common developmental symptoms are the

ability to walk and talk, which takes longer than other children. Some common behavioral

problems which are more likely to occur than other children are stubbornness, impulsiveness,

and temper tantrums. Also, physical and behavioral therapies are provided for individuals
diagnosed with down syndrome: occupational, physical, speech, and behavioral therapy. In

addition, Educational therapy is provided and programs are run by states and local school

systems. From ages 3 to 21, there is access for education support through their local public

school system.

Third, Down syndrome has a lot of misconceptions. For example, people believe most

children with Down syndrome are born to older people. However, the majority of children with

Down syndrome are born to women younger than 35 years old. Another myth, people with

Down syndrome are always sick. The truth is people with Down syndrome are at risk for certain

medical conditions; However, treatments are always advancing and most individuals with Down

syndrome have healthy lives. The last myth is It is okay to use the “r-word” if you don’t really

mean it. It is never okay to use “r-word” because it’s hurtful. Always be respectful to others.

In conclusion, Trisomy 21 is a common genetic disorder. Even though it’s a disorder,

some individuals will show no signs at all. It’s important to acknowledge this disorder because of

how common it is. Also, down syndrome has a lot of misconceptions that should be

acknowledged. It’s always important to shine light on common disorders because of how

frequent it’s diagnosed.

Citations : https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

https://ndss.org/about

https://ndss.org/myths-truths

https://www.dsscotland.org.uk/resources/raise-your-awareness/myths-and-facts/