Kate is born with features that do not look quite normal. Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short.
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Essays: (at least 300 words per prompt)
1. Kate is born with features that do not look quite normal. Her eyes are wide-set and slightly slanted. Her nose is short and flat, and she keeps her mouth slightly open. There is a straight crease across her palm, and her fifth digit is unusually short. The doctor tells her parents she has an inherited disorder. If you were the doctor what would you diagnosis Kate with? Discuss the etiology of Kate’s disorder? What is the biggest risk factor for this disorder? How can or will this disorder affect Kate? What test could have been completed to diagnosis this disorder before Kate’s birth?
2. Research one autosomal dominant disease, one autosomal recessive disease, and a sex-linked disease. For each disease discuss: 1. Etiology, 2. Signs and Symptoms, 3. Diagnosis, 4. Treatment and Prevention. Provide additional information from an outside source.
3. A 12-year-old child experiences high fever and chills. He also says that his heart feels like its pounding. Two weeks before these symptoms, the child fell off his bike and skinned his knee. This child also has a history of a heart murmur. What disease should be considered and what is the treatment? What congenital heart disease is associated with heart murmurs?
4. A 59-year-old male calls the paramedics after experiencing an episode of chest pain while shoveling snow. He describes his pain as a crushing, tight feeling that radiates to his left arm and jaw. What type(s) of heart disease is this patient experiencing (explain)? What diagnostic test would you expect the physician to order and why? What is the treatment?
Almost every cell in your body contains 23 pairs of tightly wound DNA called chromosomes. You get 23 of them from your mother and 23 from your father.
One pair of chromosomes decides your sex. The others contain thousands of different genes that decide every other trait you have, from hair and eye color to your risk of getting diseases. These are called autosomes.
Some genes are “dominant.” You only need one from a parent to have that trait. Other genes are “recessive.” With them, you have to inherit the same gene from both parents to be affected.
If one of your parents passes on a recessive gene to you that can cause disease, then you become a “carrier.” You likely won’t have any symptoms, since the other gene is normal. In fact, many people won’t know they’re a carrier without being tested.
Anyone can carry a recessive gene that causes illness, but some diseases are more common in certain ethnic groups.
Common autosomal recessive disorders include:
Many autosomal recessive diseases will have a severe effect on the life of a child. In some cases, they may be fatal.
Screening for many autosomal recessive diseases is available. You may get tested if you have high odds of being a carrier of the disease, or if you just want to know the risk of having a child with one of these diseases. A DNA test can check to see if you and your partner carry any of the mutated genes that may cause your child to have a disease. This can be done by taking a blood sample or gently scraping cells from the inside of your mouth.
If you’re already pregnant, the health of your baby can be checked. Outpatient procedures such as amniocentesis and chorionic villus sampling (CVS) check fluid or tissue from your uterus to see if your baby shows signs of one of these diseases.
Newborns can also be screened for severe autosomal recessive disorders soon after birth.
If your results show that you could pass on an autosomal recessive disease to your baby, you may want to speak to a genetic counselor. This is someone who’s trained to know about medical problems that run in families. They can help you make sense of your test results and figure out what to do next.
A genetic counselor can also help if your baby is born with an autosomal recessive disorder. They’ll be able to give you information, find doctors who can help treat your baby’s condition, and connect you with support groups. It may help you to talk with other parents whose child has the same health issue.