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Advanced Genetics Study Guide Vocabulary Mutation Germ cell mutation Lethal mutation Somatic mutation Cancer Point mutation Frameshift mutation Chromosomal mutation Deletion Duplication Inversion Translocation Spontaneous mutations Mutagen Pedigree Genetic screening Karyotype Homologue Ultrasound Amniocentesis Fetoscopy Genetic Patterns Sex Chromosomes Autosomes Sex linked inheritance Polygenic inheritance Population sampling Twin studies Pedigree studies Trisomy Monosomy Diseases Cystic Fibrosis Tay - Sachs PKU Huntington’s Hemophilia Down Syndrome Also Know: Causes of mutations How to do/read a pedigree Difference between simple recessive and simple dominant heredity Sex determination Problems with studying human genetics Environmental influences (both external and internal)