Down Syndrome

Description:
Down Syndrome is a development disorder. The disorder is caused by an exact copy of chromosome 21, because of the chromosome 21 its called “Trisomy 21”. The exact copy of this chromosome causes too much protein. This can cause learning effects on the brain. The protein also has an effect on the spine, but doesn’t cause a serious problem.


Inheritance:
Down Syndrome is not inherited. The parents can’t be a carrier since it’s a mutation. This syndrome is created when the baby is getting its genes. It’s just an exact copy of chromosome 21.



Symptoms:
There are several symptoms of Down Syndrome:
· Flat face
· Small broad nose
· Abnormally shaped ears
· Large tongue
· Upward slanting eyes with small folds of skin at corners




Daily Life:







Diagnosis:
There are 4 ways to diagnose a baby with Down Syndrome. There are 2 tests for during pregnancies. A screening test measures levels of certain materials in blood. And ultrasound can also be performed. The ultrasound will examine the fetus and watch for physical signs of Down Syndrome. There is also amniocentesis and observation after the child’s birth.


Treatment:
There is no cure for Down Syndrome. But, there are some physical and speech therapy to help the disease. There are some corrective surgery’s that are being tested to fix some chromosomes. Also living in certain environments can help the daily life be more adaptable and manageable. There are battery tests and drugs to help out too.



Research:
There is so much research being done on Down Syndrome. There are drugs being tested, battery tests and surgeries. They also have classes that dedicate 2 or 3 semesters to developing and learning about Down Syndrome and creating medicine and cures. They also are looking for a drug for early prevention.



Additional Facts:
Down Syndrome/Trisomy 21 is caused by the female’s egg in 90% of all Down Syndrome cases. Most times the sperm creates a better copy instead of an exact copy. Down Syndrome is the only Trisomy that is compatible with life. People affected by Trisomy 13 and 18 don’t survive more then a year. Down Syndrome affects 1 out of ever 800 to 1,000 babies and is the most common genetic disorder.




Punnett Square:
Does not apply to Down Syndrome.



Pedigree Chart:

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Pictures:

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Resources:

Down Syndrome
http://www.learn.genetics.utah.edu
Down Syndrome
http://www.downsyndrome.org
Down Syndrome
http://dsrtr.org
Down Syndrome
http://ghr.nlm.nih.gov