Mosaic Trisomy 21: A Case Study

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Katie is a 10-year-old girl with Down Syndrome, she is just like any other girl who likes to play volleyball and basketball. Katie was put up for adoption after her birth parents found out she had Down Syndrome. Her mom Stephanie adopted her right after she was born, it was just a few short months after she was born that Katie had open heart surgery. Having this surgery has not affected her life it has made her stronger. Katie has had an eye surgery to correct her lazy eye and has had glasses since she was 4 years old. Katie was just diagnosed with thyroid problems, meaning she will have to be on medication for the rest of her life. The National Down Syndrome Society states that there are more than 350,000 people in the United States living …show more content…
There is Trisomy 21, Mosaic Trisomy 21 and Translocation Trisomy 21. Trisomy 21 is counted for 90% of the cases of Down Syndrome. This occurs when an extra chromosome is developed in either the egg or the sperm. When the egg and sperm unite there are three chromosomes 21 meaning each cell will have the extra chromosome in it. Mosaic Trisomy 21 is the rarest form it is less than 2% of all cases of Down Syndrome. In Mosaic Trisomy 21 instead of all of the cells having the extra chromosome it is only present in some of the cells and is caused after fertilization of the egg. Translocation Trisomy 21 is counted for 3-4% of cases of down syndrome. In Translocation Trisomy 21 part of chromosome 21 becomes attached to another chromosome before or at conception. Whoever the carrier is has 45 chromosomes instead of 46, they still have all the genetic material of a person who has 46 chromosomes. The carrier doesn’t exhibit any of the symptoms of Down Syndrome because they have the correct amount of genetic …show more content…
People who are born with Down Syndrome may also have problems with their speech and over all physical development, which will require Physical Therapy, Occupational Therapy and Speech Therapy. Children can still live a full life in school with a good educational program and support from friends and family. They will be able to live a full life outside of the home with the support of others also. There are adults with Down Syndrome that are able to carry on a normal job, although it may be altered a little, but just because they have a disability does not mean they are not capable of working.
Other help that a person with Down Syndrome might receive include Clinical Geneticist, Pediatrician, Cardiologist, Ophthalmologist, Neurologist, Orthopedic specialist, Child psychiatrist and an Audiologist (ncbi.nlm.nih.gov). Not all children will need all of this help, some children will only need a few. It’s important that parents who have children with Down Syndrome to get treatment for their child as soon as they can. Children can have surgery as early as 6 months old to help prevent any serious
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