Term
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Definition
| Recessive allele on chromosome #7.
Most common genetic disorder among whtie Americans. Formation and accumulation of thick mucus in the lungs and digestive tract. |
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Term
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Definition
| Recessive disorder of central nervous system.
Fatal in early childhood. Most common in Amish and Askenazic Jews. Sluggish behavior, convulsions, blindness. |
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Term
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Definition
| Recessive disorder that results from the absence of an enzyme.
Converts phenylalanine to a different amino acid. Appears normal at birth. Phyenlalanine accumulates causing mental retardation. |
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Term
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Definition
| Rare dominant allele.
Breakdown of certain areas of the brain. Onset of disease occurs between 30-50. Uncontrolled movements, neurological damage. |
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Term
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Definition
| Recessive Allele
Causes red blood cells to be irregular shape, blocks small vessels. Anemia reduces oxygen transport. Results in tissue damage and pain. |
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Term
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Definition
| X-linked recessive disorder
Causes blood to slowly clot or not clot at all. More common in males. Treated with blood transfusions or injections or clotting factors. |
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Term
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Definition
| Trisomy 21
Increase risk in older mothers. Results in mental retardation, heart defects, and distinctive physical features like extra folds in upper eyelids and shore stature. |
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Term
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Definition
| Monosomy
Female who lacks an X chromosome. Short stature, whire broad chest, lack of sexual development, webbed neck. |
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Term
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Definition
| XXY
Male, but shows poor sexual development, subnormal intelligence, 50% of cases have some degree of breast development. |
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