Case:
A 42-year-old who is Gravida: 3, Para: 2-0-2 was admitted to the delivery unit in labor. Mother was diagnosed with gestational diabetes earlier and thyroid hormone medication required adjustment several times during the last two trimesters. On admission, mother’s blood pressure was 130/70 and her pulse was 75. Fetal heart rate was 145 beats/minute. Four hours after admission, the mother delivered a 37-week, 7lb., and 2oz. baby girl. The baby had a healthy cry. The Apgar score was 8 at 1 minute and 9 at 5 minutes after birth. The healthcare provider and staff noted the baby had a 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, short fingers, and hypotonia to extremities. There also was an excess amount of skin on the back of her neck. As the mother holds her new daughter, she notices that her eyes, nose, and ears appear different from other babies. She also notices that the both baby’s hands also have very short fingers plus the fifth digit fingers are unusually curved.
- Which of the following is suspected by the healthcare provider? Provide rationale for the correct response and explain why each other response is not the appropriate one.
- Klinefelter syndrome
- Turner syndrome
- Down Syndrome
- Cri du Chat syndrome
- Explain the pathogenesis of the syndrome. In your response discuss the parent risk factor/s, nondisjunction, chromosomal abnormality, and identifies the infant’s karyotype.
- Explain how methylation differs from acetylation. Provide an example of a comorbidity that can occur with Down Syndrome due to an epigenetic disturbance.
- The patient (infant above) is now 31-years old and is experiencing increased episodes of hypotension. Explain the cellular injury that is derived from the hypotension and provide an example of a complication that may occur from the hypotension.
- Explain why this infant and those with Down syndrome across the age span are at risk for respiratory infections giving examples using innate immunity and adaptive immunity (cell-mediated and humoral response).
