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20 Cards in this Set
- Front
- Back
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1. Screening?
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a. Allows high-risk individuals to be selected out of a low-risk population.
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2. Risk to sons and daughters in X-linked disorders (i.e. hemophilia)?
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a. Sons have disease 50% of time.
b. Daughters are carriers 50% of time. |
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3. X-linked dominant syndromes?
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a. Can be passed from either parent to either child similar to that of auto-dom syndromes.
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4. Inheritance of Cystic Fibrosis?
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a. AR.
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5. Defect in CF?
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a. CFTR (Cystic Fibrosis Transmembrane conductance Regulator)
b. Gene responsible for Cl channels. |
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6. Sx of CF?
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a. Chronic lung disease
b. Pancreatic insufficiency-Malabsorption and failure to thrive. |
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7. In CF, how many mutant copies of CFTR are required for disease?
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a. 2 (Homozygosity).
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8. Inheritance of sickle cell?
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a. AR.
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9. Mutation in Sickle cell?
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a. Point mutation in gene for beta chain in hemoglobin.
b. The resulting HbS forms polymers that when deox, lose their biconcave shape and become sickled. |
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10. How is HbS screened for?
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a. Hemoglobin Electrophoresis.
b. Distinguishes HbS from HbA. |
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11. Tay-Sachs inheritance?
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a. AR.
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12. When do sx of Tay-Sachs occur and what are they?
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a. 3-10 months after birth.
b. Sx: 1. Loss of alertness 2. Excessive reaction to noise (hyperacusis) 3. Progressive developmental delay and neurologic degeneration in intellectual and neurologic function. 4. Myoclonic and Akinetic seizures can present 1-3 months later. |
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13. Characteristic PE findings in Tay-Sachs?
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a. Cherry-red spot.
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14. What do Tay sachs children eventually suffer from?
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1. Blindness
2. Paralysis 3. Dementia. 4. Typically die by age 4. |
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15. Defect in Tay-Sachs?
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a. Deficiency of Hexosaminidase A (hex A), the enzyme responsible for degradation of GM2 ganglioside.
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16. What does defect in Hexose A result in, in brain?
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a. Accumulation of gangliosides in the lysosomes resulting in enlarged neurons containing lipid-filled lysosomes, cellular dysfunction, and ultimately neuronal death.
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17. Screening test for β-thal?
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a. CBC.
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18. Confirmatory test for β-thal?
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a. Hb electrophoresis of Hgb A2 which shows an increased ratio of α:β chains.
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19. Presentation w/Downs syndrome?
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a. Short stature
b. Classic facies c. Developmental delay and MR |
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20. Associated defects w/Downs syndrome?
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a. Cardiac defects
b. Duodenal atresia or stenosis c. Short limbs. |
