Genetic Disorders:


Down Syndrome:

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Little girl with Down Syndrome.

What is it?


Down syndrome is a genetic disorder that has affected many children and families world wide. It is also
called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 800 babies born in the United States. The physical features and medical problems associated with Down Syndrome can vary from child to child. While one child needs special medical attention, another could live a healthy live the way they were born. Even though DS can't be prevented, it can be detected before the baby is even born. Health problems that come with the disorder can actually be treated and there are many resources that families can turn to for help if their child is carrying the disorder.

What causes it?


At the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical features and developmental delays associated with DS.

Although no one knows exactly how it happens nor can prevent it happening, scientists do know that women of the age 35 or older have a much higher chance of giving birth to a child with this disorder. At age 30, for example, a woman has about a 1 in 1,000 chance of conceiving a child with DS. Those odds increase to about 1 in 400 by age 35. By 40 the risk rises to about 1 in 100.

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This picture shows what an altered chromosome with DS would look like.


Symptoms of DS:

People with Down syndrome have very distinct facial features: a flat face, a small broad nose, abnormally shaped ears, a large tongue, and upward slanting eyes with small folds of skin in the corners. They have an increased risk of developing a number of medically significant problems: respiratory infections, gastrointestinal tract obstruction (blocked digestive tract), leukemia, heart defects, hearing loss, hypothyroidism, and various eye abnormalities. They also exhibit moderate to severe mental retardation; children with Down syndrome usually develop more slowly than their peers, and have trouble learning to walk, talk, and take care of themselves. Because of these medical problems most people with Down syndrome have a decreased life expectancy; about half live to be 50 years of age.

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Family looking happy with their down symdrome son.


http://www.youtube.com/watch?v=bEVkbuooXo4

I chose this video because it shows you families that have gone throughé still are going through problems with their child and their DS. It also goes into detail about the disorder and what truly is going on inside the body when a child is born with it.

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Websites:

http://learn.genetics.utah.edu/content/disorders/whataregd/down/
http://ghr.nlm.nih.gov/chromosome/21
http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://en.wikipedia.org/wiki/Down_syndrome


- These websites give you all of the information you need to know about down syndrome. From what it is, how it's caused, the symptoms to all the medical precautions you can take if this is currently happening to your family.


Ressources:

http://learn.genetics.utah.edu/content/disorders/whataregd/down/
http://ghr.nlm.nih.gov/chromosome/21
http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://en.wikipedia.org/wiki/Down_syndrome
http://images.google.ca/imgres?q=down+syndrome+chromosomes&num=10&hl=en&sa=X&tbo=d&biw=853&bih=591&tbm=isch&tbnid=nFxy58eIbCdEFM:&imgrefurl=http://lovelifeandbegentle.blogspot.com/p/down-syndrome-myths-and-truths.html&docid=x7pIVRSlx8FdiM&imgurl=http://1.bp.blogspot.com/-8Tl0hWiQqIo/TmwP0GQEOVI/AAAAAAAABCU/Yzc8jb5F8HI/s1600/21.jpg&w=324&h=324&ei=EcbTUNudD-er2AXJnoHIBg&zoom=1&iact=hc&vpx=137&vpy=245&dur=3229&hovh=225&hovw=225&tx=118&ty=118&sig=107290541062378346908&page=1&tbnh=148&tbnw=140&start=0&ndsp=13&ved=1t:429,r:5,s:0,i:100
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