Trisomy 21
Also called: Down Syndrome
What causes Down Syndrome?
What gene or chromosome is affected by this disorder?
Are there parental tests for this disorder?
What are the symptoms?
Characteristics of Down syndrome at birth:
- flat facial features
- small head and ears
- short neck
- bulging tongue
- eye that slant upward
- oddly shaped ears
- poor muscle tone
- broad, short hands with a single crease in the palm
- relatively short fingers and small hands in feet
- excessive flexibility
- short height
What population is affected?
- Over 400,000 people have Down syndrome in the US.
- Down syndrome can occur in every race.
- About 80% of babies with Down syndrome are born from women younger than 35 years old.
Can anyone be a candidate for down syndrome?
How is it inherited?
What kind of medical assistance will the affected child need?
Will further assistance be needed, as the child grows older?
What is the long-term outlook for the child?
Some Down syndrome children are born with heart problems and certain types of cancer, if these cases are severe enough, it could lead to early death. Adults with Down syndrome also have an increased risk of dementia due to their lack of ability to perform certain tasks.
Are there any treatments or cures?
Some treatments:
- Regular checkups and screening
- Medications
- Surgery
- Counseling and support
Could this disorder have been prevented?
Can this individual have children in the future?
Will those children be affected?
What is the current status of research on this disorder?
Is there a cure or new treatment coming soon?
Additional information about Down syndrome.
- Down syndrome is the most common genetic chromosomal disorder among children.
- There are tiny white spots on the colored part of the eye called Brushfield spots.
- Babies that are born with Down syndrome are typically average size, but as they get older they don't grow as fast and may remain short compared to others of the same age.
- Sitting, crawling, walking, and talking will occur at about double the age of children that do not have Down syndrome.
- There are three types of Down syndrome: Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome.
- Down syndrome may also occur in animals.
Chromosomes in human with Down syndrome
Image that shows the symptoms of Down syndrome.
Baby with Down syndrome.
Work Cited
Kenny, Tim, and Collin Tidy. "Prenatal Screening and Diagnosis of Down's Syndrome | Health | Patient.co.uk." Patient.co.uk. N.p., 18 Oct. 2013. Web. 30 Apr. 2015.
Stickler, Tracy. "Down Syndrome." Healthline. N.p., n.d. Web. 30 Apr. 2015.
Taishoff, Robert P. "Down Syndrome Facts." - National Down Syndrome Society. N.p., n.d. Web. 30 Apr. 2015.
Sharp, Katie. "Understanding Genetics." Understanding Genetics. Science Education Partnership Award (SEPA) from the NCRR, NIH, n.d. Web. 30 Apr. 2015.
Fergus, Kathleen. "Treatment Options and Therapies for Down Syndrome." About Health. American Academy of Pediactrics Policy Statement, 10 Dec. 2014. Web. 30 Apr. 2015.
Kaneshiro, Neil K. "Down Syndrome: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 10 May 2013. Web. 30 Apr. 2015.
Schoenstadt, Arthur. "Treatment for Down Syndrome." EMedTV: Health Information Brought To Life. N.p., 27 Sept. 2013. Web. 30 Apr. 2015.
Bhargava, Hansa D. "Down Syndrome Tests, Diagnosis, and Treatments." WebMD. WebMD, n.d. Web. 30 Apr. 2015.