Compare and Constrast Essay on Down Syndrome

This essay has a total of 720 words and 6 pages.

Down Syndrome

Down syndrome is a genetic disorder in which a person is born with an extra copy of
chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21,
Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses
disorders affect the body.

Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then,
once an embryo is formed and starts to develop, the chromosome is replicated in every
single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92%
of Down syndrome patients have this type. People with Trisomy usually have physical
problems.

Mosaic Trisomy 21 happens when an egg or sperm come in with an extra copy of chromosome
21, then, once an embryo is formed and starts to develop, the chromosome is replicated in
some of the cells. In Mosaic some cells have a normal number of chromosomes and some have
an extra chromosome 21. Mosaic Trisomy 21 occurs in 2-3% of patients with Down syndrome.
Mosaic Trisomy produces a wide range of possibility of a person having physical problems.

Translocation Trisomy occurs when the extra copy of chromosome 21 or a piece of chromosome
21 becomes attached to another chromosome. Usually the chromosome 21 attaches to
chromosome 14. About 3-4% of patients with Down syndrome have Translocation Trisomy 21.

Anyone can be born with Down syndrome because it is a random event. Down syndrome is not
usually inherited, but can be inherited if one of the parents is a carrier. There is a
greater chance of a child having Down syndrome if the mother is a carrier for the
disorder, rather than the father. Also, there is a greater risk of a child having Down
syndrome if the mother is over 35 years old.

There are three ways that a mother can be tested during pregnancy to see if their child
will have Down syndrome. One is amniocentesis, which is the removal and analysis of a
small sample of fetal cells from the amniotic fluid. Amniocentesis can not be done until
the 14-18th week of pregnancy and with this process there is a lower risk of miscarriage
than with the other two processes. Another process is chorionic villus sampling (CVS),
which is the extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy.
The tissue is then tested for the presence of extra material from chromosome 21. Chorionic
villus sampling has a 1-2% chance of the mother having a miscarriage. The last process is
percutaneous umbilical blood sampling (PUBS), which is the most accurate method used to
confirm the results of CVS or amniocentesis. During PUBS the tissue is tested for the
presence of extra material from chromosome 21. PUBS cannot be done until the 18-22nd week
and it carries a high risk of the mother having a miscarriage.

A person that has Down syndrome may have some physical problems or disabilities. Some
common physical problems are: short necks, poor muscle tone, a small head and an overall
smaller body. Approximately one third of babies born with Down syndrome have heart
defects, most of which are now successfully correctable. Some individuals are born with
gastrointestinal tract problems that can be surgically corrected. Some people with Down
syndrome also may have a condition called Atlantoaxial Instability, which is a
misalignment of the top two vertebrae of the neck. This condition makes these individuals
more prone to injury if they participate in activities that overextend or flex the neck.

Overall, Down syndrome is a disorder in which a person has an extra copy of the chromosome
21. This disorder can come in three forms, Trisomy 21, Mosaic Trisomy 21 or Translocation
Trisomy 21. Most people with Down syndrome have Trisomy 21 and many people with the
disorder have different physical problems and disabilities, such as Atlantoaxial
Instability. Down syndrome is not usually inherited and as of right now there is no known
cause or reason for Down syndrome to occur.










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