Down syndrome
Down syndrome is a disease that causes a child at birth to have 47 chromosomes instead of 46 chromosomes. It affects the physical features of the body. People who have Down syndrome have slanted eyes that face upward, small ears that fold over a little at the top, a small nose which has a flattened nasal bridge. They have a small mouth which makes their tongue appear larger. They also have a short neck, small hands and small feet. During childhood and adulthood, they have short structure. Down syndrome victims have a low muscle tone. This genetic disease affects many parts of the body. Heart defects, intestinal defects, hearing and memory loss. They have problems with their vision.

Inheritance: Most cases of Down syndrome are not inherited. Mosaic Down syndrome is not inherited, but Translocation Down syndrome is inherited. 3 out of 5 cases are inherited. It is caused by nondisjunction. Nondisjunction is the failure of paired chromosomes to separate. Both of the chromosomes go to one daughter cell but not the other. It is most common in women older than 35 years old. Down syndrome happens during the formation of the reproductive cells. The abnormality is most of the time in the egg cell.
  • Mental retardation
  • Develop more slowly
  • Trouble learning how to walk
  • Trouble learning how to talk
  • Trouble learning how to take care of themselves
  • Intellectual disability
  • Heart defects
  • Hypothyroidism
  • Celiac disease
Daily Life:
Adults, children and babies with Down syndrome have a very difficult life. Having Down syndrome causes mental retardation. Babies with Down syndrome have a great risk of having congenital disorders. During their teenage years, they are healthy and have the same healthcare needs as the rest of the population without a disease. Adults that are older than 40 have a great risk of having dementing disorder and Alzheimer disease. They have to take a lot of trips to the doctors and therapist office.
Diagnosis: Down syndrome is diagnosed by the physical features at birth. Before birth, there are many ways to know if the baby will have Down syndrome. There are screenings and triple screen. Most of the tests are taken eleven to thirteen weeks of the pregnancy. There are blood tests that are taken like percutaneous umbilical blood sampling and chromosome analysis. There are diagnostic test such as chorionic villus sampling and ultra sound. If the diagnostic is confirmed, it is called karyotype.
Even though Down syndrome can not be cured, there are many treatments. There is physical and speech therapy. They have to have regular check ups and regular screening to make sure everything is okay and there are no defects that can be harmful. They can have corrective surgery and thyroid level testing. They have to take medication so they will stay healthy. People with Down syndrome need counseling and support. They need special education and special training. Children with Down syndrome need medical treatment with amino acid supplements and drug piracetam which can improve the ability of the brain.
There is some research being conducted to help Down syndrome. There is a test called Preimplantation genetic diagnosis. It is used to identify genetic defects in embryos created through in vitro fertilization before pregnancy. There are tests that are on mice to see if they have a better memory. It is to target the brain function. There is an analysis of circulating fetal DNA.
Additional Facts:
There are 1 out of 800 babies a year that are born with Down syndrome in the United States. The risk of having a child with Down syndrome increases with age. Age 25- 1 in 1,250, age 30- 1 in 1,000, age 35- 1 in 400, age 40- 1 in 100, and age 45- 1 in 30. Women with Down syndrome can have a child but it is a 50-50 chance. Men with Down syndrome can not have children. To have another child with Down syndrome is 1 in 100. 40% of babies born with Down syndrome have serious heart defects.
Pedigree Chart:
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