What is Down Syndrome?
Every year in the United States 6000 babies are diagnosed with Down syndrome, making it the number one most common chromosomal disorder. It occurs due to an abnormal cell division on chromosome 21, leading the individual to have extra genetic material.
Every 1 in 700 children are born with Down syndrome
Severity
Due to the severity of Down syndrome ranging from mild to moderate, some individuals will live fairly healthy lives, while a number of others may suffer from serious problematic heart defects. Every individual is different, and therefore every individual with Down syndrome is affected differently.
Symptoms
People with Down syndrome tend to have quite distinctive facial and bodily characteristics, the most typical facial features are: Small head circumference, flattened face, protruding tongue, eyes that slant upwards, ears that are small and shaped abnormally. Bodily characteristics that are typical of a person with Down syndrome include: short stature, low muscle tone, shortened neck, hands, fingers, and feet.
Every 1 in 700 children are born with Down syndrome
Severity
Due to the severity of Down syndrome ranging from mild to moderate, some individuals will live fairly healthy lives, while a number of others may suffer from serious problematic heart defects. Every individual is different, and therefore every individual with Down syndrome is affected differently.
Symptoms
People with Down syndrome tend to have quite distinctive facial and bodily characteristics, the most typical facial features are: Small head circumference, flattened face, protruding tongue, eyes that slant upwards, ears that are small and shaped abnormally. Bodily characteristics that are typical of a person with Down syndrome include: short stature, low muscle tone, shortened neck, hands, fingers, and feet.
Causes
A typical individual contains 23 pairs of chromosomes, one set comes from the mother and the other set comes from the father, resulting in 46 chromosomes. However, individuals with Down syndrome experience abnormal cell division causing them to have extra genetic material, specifically of chromosome 21. |
There are 3 different types of Down syndrome:
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- Translocation Down syndrome: This is the only type of Down syndrome that can be inherited; it affects 4% of the population. It occurs when the mother of father has rearranged genetic material, which causes part of chromosome 21 to separate and join up with another chromosome. As a result a child with this type of Down syndrome has the typical 2 copies of chromosome 21, as well as extra material attached to another chromosome.
Created by Laura Rizvi
References
Mayo Clinic. (2014). Down Syndrome: Definition. Retrieved from http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/definition/con-20020948
Mayo Clinic. (2014). Down Syndrome: Causes. Retrieved from http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
NDSS: National Down Syndrome Society. (n.d.). What Is Down Syndrome? Retrieved from http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/
Mayo Clinic. (2014). Down Syndrome: Definition. Retrieved from http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/definition/con-20020948
Mayo Clinic. (2014). Down Syndrome: Causes. Retrieved from http://www.mayoclinic.org/diseases-conditions/down-syndrome/basics/causes/con-20020948
NDSS: National Down Syndrome Society. (n.d.). What Is Down Syndrome? Retrieved from http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/