Altered States of Development A 42yearold Caucasian woman ga

Altered States of Development

A 42-year-old Caucasian woman gave birth via cesarean section to a baby boy weighing 7 pounds 7 ounces. The mother is doing well but the OB/GYN immediately notes that the baby has slanted eyes, flattened facial features, a small head, and short neck. The doctor also notices his tongue is protruding, while cuddling with the mother.

1. Explain why this mother\'s age is directly connected to this altered developmental condition in the infant.

2. List 3 differential diagnoses and include your reasoning behind each.

3. What is the best diagnosis? Explain how you came to this conclusion.

4. What are another three signs/symptoms that we can expect in this child?

Solution

1). Slanted eyes, flattened facial features, a small head, and short neck are the signs of Down\'s syndrome.

Down syndrome is a result of chromosomal abnormality. Patients with Down syndrome generally have three copies of chromosome 21, rather than the normal 2. So, they have a total of 47 chromosomes.

With an increasing age, the occurrence of chromosomal mutations (non-disjunction, particularly in meiosis II) increases in females (those above 35 years of age). This is the reason why most of the Down syndrome cases are due to mutations in the maternal genome. Thus, the mother\'s age is directly connected to this altered developmental condition in the infant.