Explaining the Genetic Condition
Use information provided and the "Discussion Forum Sample" to answer the following questions.
Scenario
Mrs. D.S. is a 42-year-old Caucasian female who was admitted to the delivery unit with labor pains. She was accompanied by her 44-year-old husband. Mrs. S. had been in relatively good health before her pregnancy. However, while pregnant she was diagnosed with gestational diabetes. Furthermore, her dose of thyroid hormone had to be adjusted several times during the last two trimesters. At time of admission, Mrs. S.'s blood pressure was 129/68 and her pulse was 70. Fetal heart rate was 140 beats/minute. Four hours after admission, Mrs. S. delivered a 37-week, 8-pound, 1-ounce baby girl.
The delivery room physician and nurse immediately noticed that the baby had a rather small head with a flat occiput, a broad and flat nasal bridge, folds of skin in the corners of the eyes, an upward slant to the eyes, a protruding tongue, and short fingers. There also was an excess amount of skin on the back of her neck.
Questions
Answer the following questions:
These physical characteristics are highly suggestive of some type of chromosome abnormality. What is the most likely cause of this infant's physical characteristics? Explain your answer.
The parents struggle to understand what happened to their baby. "We don't smoke, drink, or take drugs, so why did this happen?” the mother asks. How do you explain this infant's condition to the parents?
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The infant likely has Down syndrome, which occurs because of genetic alterations where there is the presence of an extra chromosome. The cells of the human body have 46 chromosomes distributed in 23 pairs. People with Down syndrome have three chromosomes in pair 21 (trisomy 21) instead of the two that usually exist. This infant's physical characteristics are closely linked with the extra genetic material that affects development and physical features such as the flat facial profile, small head and mouth, and slanted eyes (VanMeter & Hubert, 2015). There are delays in development and cognitive impairment.
In explaining the genetic condition, I would highlight the risk increasing with the mother's age and how genetic alterations and the cell process result in an extra chromosome. In a majority of cases, Down syn...
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