Term
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Definition
females are usually unaffected carriers, men are affected
Klinefelter (men have extra XXY)
hemophilia A
Duchenne Muscular Dystrophy |
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Term
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Definition
| wrong number of chromosomes; usually more than we need. (trisomy) caused by aneuplody when chromosomes are unable to divide properly when undergoing replications. |
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Term
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Definition
| not correct number of chromosome; extra set of chromosome. |
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Term
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Definition
| has only one functional X chromosome. symptoms of webbing of neck, infertile, early menopause, never have menstrual cycle. |
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Term
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Definition
| autosomal dominant; neurodegenerative, decrease in muscles and cognition. 50% risk inheritance. |
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Term
| duchenne muscular dystrophy DMD |
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Definition
| X linked recessive; progressive muscle weakness, affects skeletal, movement, heart. occurs in more males. |
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Term
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Definition
| X linked recessive (Queen Victoria) lack of clotting factor 8 &9. males are affected from the X given by moms. |
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Term
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Definition
| Autosomal recessive; salty tasting skin, abnormal secretion of glands..lung infections. |
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Term
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Definition
Cystic fibrosis
sickle cell anemia
Tay Sachs (nervous system)
PKU (Phenylketonuria)
Glycogen Storage disease |
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Term
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Definition
Retinoblastoma (Rb1 tumor suppressor gene)
hungtington disease (neurodegen of muscle)
achondroplasia (defect in long bone)
Marfan (affect connective tissues)
familial hypercholesteremia
Li-Fraumeni (suppress p53) |
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Term
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Definition
Downs Sydrome tri 21; MR, almond eyes, heart defects
Edwards-trisomy 18, short neck, low set ears, MR, limited hip abduction, prominent occiput.
Pautau-tri 13; clet lip/palate, polydactly, MR. |
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