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National Down Syndrome Organizations
down syndrome
down syndrome hereditary information
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Down syndrome told by kids

Medical

How does a person inherit it? Is it dominant or recessive?
A baby inherits genetic information from its parents when it's born with 46 chromosomes, 23 from each of the parents. Usually in most cases of down syndrome the child is born with an extra chromosome 21, making 47 chromosomes instead of 46, this extra genetic material cause the physical and development delays with down syndrome.

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What are the possible genotypes of the parents?
Less than 1% of Fragile X Syndrome cases are a result of deletion, neither parent is a carrier.
If a father is a carrier/full mutation he will pass the mutated gene to his daughters and all of his daughters will be carriers.
If the mother is a carrier/full mutation,there is a possibility of passing on Down Syndrome or full-Mutation to every ch
ild (male/female).

How prevalent is the disease in the population (include statistics)?
Down Syndrome occurs in 1 of every 740 births.


What are the chances of a person with this disease passing the disease to their offspring (include possible scenarios)?It affects about 1 in every 800 babies.


How is the disease diagnosed?
Down syndrome is diagnosed one of two ways, either during pregnancy or shortly after birth.


What are the physical symptoms of the disease?
The physical symptoms are Decreased muscle tone at birth,Excess skin at the nape of the neck,Flattened nose,Separated joints between the bones of the skull,Single crease in the palm of the hand,Small ears,Small mouth,Upward slanting eyes,Wide, short hands with short fingers,White spots on the colored part of the eye.


What is the life expectancy of someone with the disease? 15% die before turning one, 35% die at around the age of 50, 50% of the people die after the age 50.



How can the disease be treated?
There is no specific treatment for Down syndrome. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery.
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Personal
What is everyday life like? What is the quality of life? Living with down syndrome every day makes it hard for people with down syndrome to play in sports and do good in academic life. People with down syndrome can usually do almost everything a normal person can do such as eating drinking and doing every other every day activities.

What limitations does the person have?
Down syndrome affects kids' ability to learn in different ways, but most have mild to moderate intellectual impairment. Kids with DS can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace — which is why it's important not to compare a child with DS against typically developing siblings or even other children with the condition.


What are some organizations that can help a family cope with a child's disorder (web links)?
The National Down Syndrome Society


How possible is it that a cure will be found?
At this point there is no medication that will help cure it. You can get surgery at birth to help it.


Visit the site below for information to start your research.

Genetics Home Reference