Down Syndrome: Genetic Disorder
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.
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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