Syndrome
Description:
Down syndrome is an extra copy of chromosome 21. An extra copy of chromosome 21 means each sell wall produces more protean than normal. Having this can lean to having serious consequences.


Inheritance:
Down syndrome is typically caused by nondisjunction. Nondisjunctions seem to occur more frequently in older women. In rare cases it is caused by Robertson Ian translations, this occurs when the long arms of chromosome 21 breaks off and attaches to another chromosome at the centromere.



Symptoms:
There are a lot of things you can look for in a person with down syndrome, for an example most have a flat face, small broad nose, abnormal shaped ears, a large tongue, a wide neck, short stocky arms, small low set ears, and also there is only a single crease in there hand.

Daily Life

Diagnosis:
There are two types of tests a women gets during a pregnancy they are called a screening test and a diagnostics test. A screening test identifies if a mother is carrying a baby with down syndrome. A diagnostics test is when they each have to take a sample for the placenta, amniotic fluid, or umbilical cord to determine if he/she has an extra copy of chromosome 21. This syndrome is normally identified at birth or shortly after, most people can tell by the baby’s physical characteristics that are commonly seen in babies with Down syndrome.

Treatment:
There are no cures for Down syndrome but there are ways too help them. Some ways are they can go to physical therapy and/or speech therapy, they can get regular check ups and screenings, medications, surgery’s, counseling and support, and also special education classes.

Research:
They are doing some research to identify the structure and function of these proteins and how they affect the phenotype.



Additional Facts:
· Down syndrome is really the only trisomy compatible with life. Only two other trisomies have been observed in babies born alive but babies born with these trisomies have only a 5% chance of surviving longer than one year.
· In 90% of Trisomy 21 cases, the additional chromosome comes from the mother's egg rather than the father's sperm.
· Down syndrome is the most common genetic disorder caused by a chromosomal abnormality. It affects 1 out of every 800 to 1,000 babies.
· Down syndrome was originally described in 1866 by John Langdon Down. It wasn't until 1959 that a French doctor, named Jerome Lejeune, discovered it was caused by the inheritance of an extra chromosome 21.


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Pedigree Chart:
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Pictures:
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Resources:
http://learn.genetics.utah.edu/content/disorders/whataregd/down/index.html

http://kidshealth.org/parent/medical/genetic/down_syndrome.html
http://www.nichd.nih.gov/health/topics/down_syndrome.cfm
http://downsyndrome.com/
http://www.medicinenet.com/down_syndrome/article.htm