Down Syndrome

By: Kenzie Delaney

Who discovered and has done research on Down Syndrome? What is the current status of the research?

Doctors and Scientists have discovered this disease and are still researching to find out all the facts. These Doctors and Scientists still want to find out as much as they can and they are still searching for more. The current status of research is that Jeanne Lawrence, PhD, from the University of Massachusetts Medical School has discovered the third chromosome on the 21st. It's known has trisomy 21. Down Syndrome research has lead more to understand the mechanisms towards the symptoms of this disease.



MLA Format

McNamee, David. "Down Syndrome: What Is the Current Focus of Research?" Medical News Today. MediLexicon International, 3 Oct. 2014. Web. 04 Apr. 2016.

What are the signs and symptoms of Down Syndrome?

Head is smaller than normal, Flattened nose, large tongue, slanted eyes, shorter than average height, white spots on the colored part of the eye(called Brushfield spots), wide, short hands with short fingers, a single, deep, crease across the palm of the hand, and decreased or poor muscle tone.


Visual signs of down syndrome:

being short, weak muscles, stocky build, slanted and close together eyes, and having small ears.


MLA Format

Eunice Kennedy Shriver National Institute of Child Health and Human Development, n.d. Web. 04 Apr. 2016.

How often does this occur in the population?

Down Syndrome is the most common occurring chromosomal condition. 1 in every 691 babies in the U.S. are born with this disease. There is usually around 6,000 per year. There is around 400,000 people in United States that live with Down Syndrome.

Is Down Syndrome more frequent amoung a certain gender or ethnicity?

This disease can occur in all races and economic levels. The age of the mother can play a big role of the child having Down Syndrome. The fathers age also is an imortant part because the father could affect if the child has Marfan's Syndrome.


MLA Format

Goodall, Laura. "The Human Genome Project - What Are the Consequences?" The Human Genome Project - What Are the Consequences? Gender and Ethnicity, n.d. Web. 04 Apr. 2016.

What is the typical prognosis of someone with Down Syndrome?

The life span of people that have Down Syndrome can vary. It has increased throughout the decades. In 1983 it was 25 years old of age and now people can live up to being 60 years old.

What types of treatments are given to people that have Down Syndrome?

Since there is problems with the chromosomes there is no cure. The treatment is controlling the symptoms and any medical conditions that result from Down Syndrome.


Treatment for Down Syndrome can include:

  1. Regular checkups and screening
  2. Medications
  3. Surgery
  4. Counseling and support

How was Down Syndrome inherited? What type of inheritance was it and the type of mutation?

Down Syndrome was inherited by the parents grandchildren. Basically the error is when the sperm and egg aren't transferred to where they should of gone. Some times the sperm and egg don't line up and that's where the issue starts with the extra 21st chromosome. The type of inheritance would be sex-linked because it's not necessarily the mom or the dads fault. The sperm and egg sometimes go different directions that you have no control over. Later on in life something could affect the parents grandchildren you're just never sure. It could some how turn into a silent mutation but not until time passed on. The type of mutation would be chromosomal because it happens with the sperm and egg and also in the cell which controls what is happening around it and what will change in it. This disease is very defected once you know you have the extra 21st chromosome. This could change how it transfers throughout the family cycle even if it doesn't affect anyone there is always that possibility. This also could be a frameshift mutation because it affected the entire strand of things but in this case the chromosome. The Frameshift mutation changes the whole chromosome so now it has completely different functions from when it was normal.


MLA Format

Sharp, Katie. "The Tech Museum of Innovation, Understanding Genetics." Extra or Missing Chromosomes. N.p., 25 July 2012. Web. 04 Apr. 2016.