Down Syndrome Genetic Mutations

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Last updated 6 years ago

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Down Syndrome Genetic Mutations

What allele mutation causes this disorder? The allele mutation is having an extra copy of chromosome 21.(Mayo Clinic)

What is the definition of this disorder? Down syndrome occurs when an individual has an extra or partial copy of chromosome 21. Down syndrome is the most common genetic disorder.(Mayo Clinic)

What are sings and symtoms of this disorder? Symtoms, features and signs to this disorder are short height, flattened facial features, poor muscle tone, upward slanting eyes, single crease down the center of the palm and much more.(Mayo Clinic)

Who is commonly affected by this disorder? People that are commonly affected by this disorder are people who get Down syndrome caused by Trisomy 21. Down syndrome is caused 95% of the time by Trisomy 21. (Mayo Clinic)

What are treatments or new treatments for this disorder?Doctors and secialists have an early itervention program that gives kids stiulation at a young age. It includes people that help kids with Down syndrome to learn life skills, social skills and language skills. (Mayo Clinic)

What kind of support is available for parents? You can get support by finding professionals to help make decisions. Build a team of health care providers. Reach out to other families who are dealing with the same thing. Expect the best from everything. (Mayo Clinic)

If your interested in Genetic Mutations another career is being a doctor. Doctors help people with Genetic Mutations. The doctors provide treatments for those who need it. Doctors also research a lot of different disorders. (Mayo Clinic)

One career is being a specialist. Specialists help with all kinds of Genetic Mutations. They provide people with Genetic disorders the care they need. They aso help develope skills they will use in life. (Mayo Clinic)

What are the day to day support and adaptions that a person with Down syndrome must deal with?People with this disorder have to adapt to being a little different from everyone else. They also have to adapt to not being able to speak propely or do things on their own. (Mayo Clinic)

What are treatments and therapies for this disorder? Children can go to an early intervention program that offers kids with Down syndrome stimulation at an early age. (Mayo Clinic)

What are tests and procedures done to diagnose this disorder? Doctors do screening test during pregnancy, bood tests, DNA analysis and integrated screening tests. They can also tell by the newborn baby's features. (Mayo Clinic)

Google images+Down sydrome

Google images+Down syndrome

Google images+Down syndrome

Google images+Down syndrome

Support, Adaptions

Definition

New treatments

Down Syndrome Genetic Mutations

Allele Mutation

People commonly affected

Signs, symtonms and features

Tests and procedures

Treatments and Therapy

Support available for parents

Career for People Interested in Genetic Disorders


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