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20 Cards in this Set

  • Front
  • Back
Down Syndrome
AKA Trisomy 21
causes retardation, wide set eyes, often heart problems
Gaucher's Disease
metabolic disorder in which fats cannot be metabolized so they build up in the liver & spleen
Parkinson's Disease
neurodegenerative disease which typically appears in midlife
causes tremors
Brukitt Lymphoma
caused by translocation
results in cancer of lymphatic system
Down Syndrome
AKA Trisomy 21
causes retardation, wide set eyes, often heart problems
Cri-du-chat Syndrom
deletion on #5 chromosome
causes retardation & deformed larynx
Gaucher's Disease
metabolic disorder in which fats cannot be metabolized so they build up in the liver & spleen
Parkinson's Disease
neurodegenerative disease which typically appears in midlife
causes tremors
Brukitt Lymphoma
caused by translocation
results in cancer of lymphatic system
Cri-du-chat Syndrom
deletion on #5 chromosome
causes retardation & deformed larynx
Pituitary Dwarfism
caused by several gene mutations
results in short stature
Galactosemia
metabolic disorder in which the body can't process a simple sugar
caused by mutation
treated with strict diet
Cleft Lip and Palate
caused by a combination of genes
results in deformed lip and mouth
Osteogenesis Imperfecta
Brittle Bone disease
lack of collagen weakens bones
Spina Bifida
Open Spine
causes damage to the spinal column
Phenylketonuria
PKU
metabolic disorder
unable to process proteins
Albinism
caused by a lack of the pigment melanin which results in white skin & hair & pink eyes
Marfan Syndrom
disorder of connnective tissue
caused by a dominant gene
causes long arms, fingers & legs, heart problems
Klinefelter's Syndrome
XXY
causes infertility
treated with hormones
Sickle Cell Anemia
cuased by a recessive mutation of chromosome 11
causes red blood cells to be crescent shaped instead of round