BIOLOGY HUMAN GENETIC TRAITS@examples

BIOLOGY HUMAN GENETIC TRAITS@examples - HUMAN GENETIC Click...

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Click to edit Master subtitle style 4/20/11 HUMAN GENETIC TRAITS Raffy B. Ballon Teacher
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4/20/11 SOME AUTOSOMAL RECESSIVE ALBINISM – absence of pigment in skin, eyes, hair ATAXIA TELAGIECTASIA progressive degeneration of nervous system BLOOM SYNDROME
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4/20/11 CYSTIC FIBROSIS – mucous production that blocks ducts of certain glands, lung passages; often fatal by early adulthood FANCONI ANEMIA – slow growth; heart defects; high rate of leukemia GALACTOSEMIA – accumulation of galactose in liver; mental retardation
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4/20/11 SICKLE CELL ANEMIA – abnormal hemoglobin, blood vessel blockage; early death THALASSEMIA – improper hemoglobin production; symptoms range from mild to fatal XERODERMA PIGMENTOSUM – lack of DNA repair enzymes, sensitivity to UV light; skin cancer; early death
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4/20/11 SOME AUTOSOMAL DOMINANT ACHONDROPLASIA – dwarfism associated with defects in growth regions of long bones BRACHYDACTYLY – malformed hands with shortened fingers CAMPTODACTYLY – stiff, permanently bent little fingers CROUZON SYNDROME – defective
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4/20/11 EHLERS-DANLOS SYNDROME connective tissue disorder, elastic skin, loose joints FAMILIAL HYPERCHOLESTEROLEMIA elevated levels of cholesterol; predisposes to plaque formation, cardiac disease; may be most prevalent genetic disorder
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4/20/11 HUNTINGTON DISEASE progressive degeneration of nervous system; dementia; early death HYPERCALCEMIA elevated levels of calcium in blood serum MARFAN SYNDROME
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4/20/11 NAIL-PATELLA SYNDROME – Absence of nails, kneecaps PORPHYRIA – inability to metabolize porphyrins; episodes
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BIOLOGY HUMAN GENETIC TRAITS@examples - HUMAN GENETIC Click...

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