Down syndrome


Description:
Down syndrome is a mutation that occurs in 1 out of 720 newborns that affects their whole life. It occurs when the replicating cells make an extra gene in chromosome 21, and instead of having 1 gene from each parent they end up having 2 genes from 1 parent and 1 more from the other parent, it is also called trisomy 21 due to the fact that is a trisomy in chromosome 21. It also shortens the life span of the child to 55.
Inheritance:
sense this genetic disease is a mutation in the chromosome it is not inherited from either parent. Instead it is just an accident that seems to occur during the production of a baby. Though, it does seem to occur in female eggs a bit more often then in male sperm, and especially in women around the age of 55.
Symptoms:
Though the harshness of the symptoms my very for each person they are tend to stay in the same range. One of the symptoms is that they will have is learning disorders and difficulty understanding at times. Also in most cases they will have facial changes. Some might be larger than others or more obscene then others. Another vary important symptom is that they will have hypertonia, which is a disorder in which the muscles are weak and fragile. Other symptoms are: short, stocky arms and legs, a wide space between the big toe and second toe, and a single crease across the center of the palms of the hands.
Daily Life:
Diagnosis:
Down syndrome is diagnosed one of two ways, either during pregnancy or shortly after birth. The diagnosis is always based on the presence of an extra number 21 chromosome on a karyotype, which is a picture of the chromosomes. They take this picture using a electric microscope.
Treatment:
They treat Down syndrome by giving certain types of medicines to help slow down the progress of the disease. Though, they also use physical therapy to counter act the weak muscles that patients have. Some patients must undergo mental therapy to help them from depression, yet most must undergo another type of mental therapy to help them understand things that are difficult for them to learn.
Research:
Sense 1866 research has been conducted to see how to fix Down syndrome. Now they are trying to see if using amino acid supplements would help to minimize the effects of this disease. Also they are still are still far from being able to cure any genetic disease, yet they are getting closer every day to finding a way to eradicate the bad genes.
Additional Facts:
Addional facts about Down syndrome are: it’s also called trisomy 21.
It was found in 1866
It was understood in 1956
It decreases the life expectancy down to 55 year old
It also makes them venerable to multiple other life threatening diseases.
Punnett Square:
Sense this disease is a mutation there is not punnett square because it is not inherited. Instead is it just a disorder in which the genes in chromosome 21 are 3 instead.
Pedigree Chart:
Half shaded shapes are carriers, non shaded shapes don’t have or carry the disease, and fully shaded shapes are
Slide1.PNG
Resources:
Include hyperlink to websites that you used as part of your research.
these are all websites dedicated to Down syndrome:
http://www.ehow.com/
http://www.ndss.org/ http://down-syndrome.emedtv.com