PSYC2010 Study Guide - Final Guide: Webbed Neck, Chromosome, Anemia

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Cooley s anemia: pale appearance, retarded physical growth, and lethargic behavior beginning at infancy. Cystic fibrosis: lungs, liver, and pancreas secrete large amounts of thick mucus, leading to breathing and digestive difficulties. Phenylketonuria (pku): inability to metabolize the amino acid phenylalanine, contained in many proteins, causes severe central nervous system damage in the first year of life. Sickle cell anemia: abnormal sickling of red blood cells, causes oxygen deprivation, pain, swelling, and tissue damage. Tay-sachs disease: central nervous system degeneration, with onset at about 6 months, leads to poor muscle tone, blindness, deafness, and convulsions. Huntington disease: central nervous system degeneration leads to muscular coordination difficulties, mental deterioration, and personality changes. Symptoms usually do not appear until age 35 or later. Marfan syndome: tall, slender build; thin, elongated arms and legs; and heart defects and eye abnormalities, especially of the lens. Excessive lengthening of the body results in a variety of skeletal defects.

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