Down Syndrome

Description: Down syndrome is a disorder when someone has 47 chromosomes instead of 46. This is because they have three copies of the 21 chromosome instead of two. A baby is supposed to receive 23 chromosomes from the mother and the other 23 chromosome from the father to make up 46 in all; however, they get an additional one. Most of the time, chromosome 21 gets attached to chromosome 14 during the stage of cell division. This ends up increasing the number of chromosomes in the baby’s body. This causes problems with the body and brain development. When you have Down syndrome your eyes are slanted upward, your ears are small with little folds at the top, your mouth, hands, feet and nose appear smaller than usual, and your neck is shorter. Even as a child or adult they have a short body structure. This disease makes you weaker because of the lesser muscle tone.
Inheritance: Down syndrome is not inherited. It is caused by nondisjunction. Nondisjunction is when one or more pairs of homologous chromosomes fail to separate usually during the formation of the egg. Both of the chromosomes go to the daughter cell. Nondisjunction is common in older women like 35 or older. The Mosaic Down syndrome is not inherited, but the Translocation Down syndrome is inherited. 3 out of 5 cases of sown syndrome are inherited.
Symptoms: The symptoms of Down syndrome are birth defects, mental retardation, smaller physical features in the body, and flat face. When you have Down syndrome you develop slowly and have trouble learning and talking. You usually have vision problems, memory loss, hearing loss and infections. They can’t really take care of themselves, so they are watched 24/7. They develop more slowly (physically and mentally) than other children. They may suffer from digestive problems; they can get lung infection affecting proper breathing and constipation.
Daily Life:
People who have Down syndrome have a hard life. The daily life for them is countless number of trips to the doctor, therapists, and specialized care professionals. Most people with Down syndrome have a rough time making friends, so they need a lot of love from family as possible. They also have to deal with surgeries for heart defects, infections, and even leukemia. Because of the mental retardation that is caused by the Down syndrome it makes it harder to live a normal life. Babies have a great risk of have congenital disorders. Adults have the risk of receiving the Alzheimer’s disease when aging.

Diagnosis:Down syndrome is diagnosed by many different tests. When a woman is pregnant, they can identify if she is a carrier of Down syndrome by tests such as Triple Screen and Alpha-Fetoprotein Plus. These tests show if the baby has Down syndrome. There are many other tests that can diagnose Down syndrome; other tests include Amniocentesis which is done at around 12-20 weeks of pregnancy, Chorionic Villus Sampling which is done at around 8-12 weeks of pregnancy, and Percutaneous Umbilical Blood Sampling which is done at around 20 weeks of pregnancy. These tests will tell you if your baby will have Down syndrome.
Treatment: There really isn’t a solid treatment for Down syndrome, but the best you can do is take medications, go to physical or speech therapy, and stay healthy. For the mother who is carrying a Down syndrome baby, taking folic acid will reduce the risk of them having birth defects of the brain and spinal cord. You can have corrective surgery to fix any of the problems of the body and many other tests to check their health. To control Down syndrome you go to your regular check-ups and counseling sessions to stay strong.
Research: The research that is being done on Down syndrome is that it has a Premimplatation genetic diagnosis. There is also an analysis of circulatory for the Fetal DNA. Some researchers believe that Down syndrome is related to the “overexpression” of APP. The symptoms of down syndrome can even be controlled with an Alzheimer’s drug. Researchers say that in 88% of the cases of babies born with Down syndrome, the carrier was the mother. In 8% of the cases, the carrier was the father. And in the remaining 2% the cause was an error in cell division.
Additional Facts: Additional facts on Down syndrome are the different ages of the chances for a pregnant woman to be a Down syndrome carrier. At age 25 you have a 1 in 1,250 chance, at age 30 it’s a 1 in 1,000 chance, age 35 it’s a 1 in 400 chance, age 40 is a 1 in 100 chance and age 45 is a 1 in 30 chance. Men that have Down syndrome have a 50% chance of not being able to have children. 40% of the babies that are born with Down syndrome have serious heart defects. Your PowerPoint Jpeg of Punnett Square with Key will be inserted here. (centered)
Pedigree Chart:
Jacquelyn_H_pedigree_chart.PNGhalf fulled shape-carrier
not fulled shape-no disease
fulled shape-has disease
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