Trisomy 21: Down Syndrome

1. Trisomy 21: Down Syndrome By: Taylor Kresge • Down syndrome occurs in about 1 in every 740 newborns

2. Type of Genetic Disorder Down Syndrome is chromosomal disorder (autosomal) caused by an error in cell division that causes an extra 21st chromosome. Inheritance pattern: There is a lot about the mothers age when she has a child. The older the mother is the higher of a risk for the child to have Down Syndrome. There is not a specific gender or ethnicity that gets Trisomy 21. Down’s chromosome picture

3. Symptoms and effects • Like any disorder the symptoms vary from person to person. But these are some of the most common symptoms and effects: • Flat facial profile • Short neck • Abnormally shaped ears • Learning disabilities • Leukemia and other cancers

4. Diagnosis • There are two ways to diagnose down syndrome, one way is during pregnancy or at birth. • Two types of testing during pregnancy is screening and diagnostic testing. The two most common screening tests are the Triple Screen and the Alpha-Fetoprotein plus. These types of tests measure the levels of certain substances in the blood. • To confirm the results from the screening test you can place a diagnostic test on the child. Some of them include the chorionic villus sampling(CVS), amniocentesis, an percutaneous umbilical blood sampling(PUBS). • You can start getting tested while the child is in the womb, or the doctor can usually tell once the child has been born is he/she has Trisomy 21

5. Prognosis • Back in the day the life expectancy for a person with Down syndrome would be up to nine years. But now people born with Downs are living to 50 years old an even beyond that. An now adults with this syndrome are living fuller better lives for them. They are going on living a normal life pretty much. • Because of all the different medical conditions that come along with having downs there is a higher rate of premature death. Down syndrome itself is not deadly but all of the cancers an different problems that come with it is really the deadliest part.

6. Treatment and Genetic counseling • There is no cure for down syndrome at this time. There are medications you can take for the other affects that the down syndrome make you more susceptible for. There are surgical procedures that you can have done if needed. • There are many different paths you could go on for counseling for a child with downs, for example speech counseling or physical therapy. • Every woman is recommended to see a Genetic counselor, When the mother is 35 or older they are strongly recommended to see one, to talk about the possibilities an testing to be done.

7. Current research • Still today they have not found a cure for Trisomy 21 but they offer many different kinds of therapies an medications to help with it. • One place where parents can go for support near Sycamore is Ups for Downs in Schaumburg, Il • Contact Info: Address: Hartford Plaza,1070 South Roselle Road 60193 Phone: 847-895-2100

8. One great story • A lot of families put their stories of their down syndrome children to help inspire others to stay positive an etc. Their stories are so moving and when you here them it usually makes you feel very lucky to have been given such a great life, even though you may not always see your life as a great one. But compared to families with down syndrome, you life seems to be the best one ever.

9. Credits • http://ghr.nlm.nih.gov/condition/down-syndrome • http://down-syndrome.emedtv.com/down-syndrome/down-syndrome-symptoms.html • http://www.mayoclinic.com/health/down-syndrome/DS00182/DSECTION=tests-and-diagnosis • http://www.cafamily.org.uk/inherita.html