Down Syndrome
By: Haylie Gwaltney
What is Down Syndrome?
Down Syndrome is a birth defect caused by a gene problem that happens before birth. During embryo development the embryo normally inherits 46 chromosomes, 23 from each parent. A fetus with down syndrome has inherited 47 chromosomes resulting in differences of boy structure and brain development. It is a structural effect.
How to test for and treat Down Syndrome
- Screening tests like ultra sounds can help you determine down syndrome at an early stage.
- Diagnostic tests include Amniocentesis, Chorionic Villus Sampling, and Cordocentesis that are given during pregnancy.
- A karyotype test is given after birth to diagnose.
- Down syndrome can not be treated, with that in mind a team is set up for the child with down syndrome medical needs.
Causes and Complications/ Life Expectancy
- Trisomy 21 Down Syndrome caused by three copies of 21 chromosomes instead of two copies.
- Mosaic Down Syndrome is caused by abnormal cell division after fertilization.
- Translocation Down Syndrome occurs when part of chromosome 21 attaches to another chromosome before or at conception.
- Complications include heart defects, Leukemia, and, Dementia, sleep apnea, obesity, and infectious diseases.
- Expected to live up to 60 years old.
Symptoms
There are over 50 symptoms, some include:
- Flattened facial features
- Small head
- Short neck
- Intellectual disability
- Flattened facial features
- Small head
- Short neck
- Protruding tongue
- Upward slanting eyes, unusual for the child's ethnic group
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the colored part (iris) of the eye called Brushfield spots
- Short height
Work Cited
- "Down Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Ed. Mary L. Gavin. The Nemours Foundation, 01 Sept. 2015. Web. 14 Oct. 2015.
- "Down Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Ed. Mary L. Gavin. The Nemours Foundation, 01 Sept. 2015. Web. 14 Oct. 2015.
- "Down Syndrome-Symptoms." WebMD. WebMD, n.d. Web. 14 Oct. 2015.