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BCCPC Med Term Ch 2

Genetics - Birth Injuries pg 26-27

Genetics The study of how genes are transferred from the parents to their children and the role of genes in health and science
Geneticist Specialist in the field of genetics
Genetic Engineering Research to identify defective genes and to develop gene therapy to treat or replace these faulty genes
Genetic Mutation Changes that occur within genes
Somatic Cell Mutation Change within the cells of the body that affect the individual but cannot be transmitted to the next generation.
Gametic Cell Mutation Change within the genes found in the gametes (sperm or ovum) that can be transmitted by parents to their children.
Genetic Disorders AKA Hereditary Disorders; diseases or conditions caused by a defective gene - transmitted by the parent
Cystic Fibrosis Genetic disorder of the exocrine gland.
Down Syndrome AKA Trisomy 21; Down's Syndrome Genetic syndrom characterized by varying degrees of mental retardation and multiple physical abnormalities
Hemophilia A group of hereditary bleeding disorders in which one of the factors needed to clot the blood is missing. Transmitted (passed) from mother to son.
Huntington's Disease (HD) AKA Huntington's choria (HC) Hereditary disorder with symptoms that first appear in midlife and cause the irreversible and progressive loss of muscle control and mental ability.
Muscular Dystrophy (MD) A group of genetic diseases characterized by progressive weakness of muscle fibers
Phenylketonuria Genetic Disorder in which an essential digestive enzyme is missing; detected by blood test at birth; if not detected causes severe mental retardation
Sickle Cell Anemia Genetic disorder caused by genes that produce abnormal hemoglobin in the red blood cells
Tay-Sachs disease (TSD) Hereditary disease marked by progressive physical degeneration, mental retardation, and early death.
Congenital Disorder Abnormal condition that exists at the time of birth and may be caused by a developmental disorder before birth, premature birth, or injuries during birth
developmental disorder may resuts in an anomaly or malformation such as the absence of a limb or the presence of an extra toe at birth
Prenatal influences The mother's health and the care she receives before delivery.
Fetal Alcohol Syndrome (FAS) congenital disorder characterized by prenatal and postnatal physical and behavior traits including growth deficiencies and abnormalities, mental retardation, brain damage, and socialization difficulties
Birth Injuries congenital disorders that were not present before the events surrounding the time of birth EXAMPLE: Cerebral Palsy - caused by premature birth or be due to inadequate oxygen to the brain during birth
Created by: ms.adams