Genetics

• Aneuploidy

  A gain (trisomy) or loss (monosomy) of a single chromosome
• Euploidy


  A change in the number of whole sets of chromosomes
• Chromosomal Structural Change

  Deletions, duplications, translocations, or inversions of chromosomal segments
• Chromosomal Mutation

  Changes occur in the number or structure of chromosomes
• Frameshift Mutation

  The insertion or deletion of one or more nucleotides alters the reading frame of the genetic code
• Point Mutation


  A single nucleotide is changed, leading to a change in the genetic code
• Karyotyping


  A process to analyze and visualize the number, shape, and structure of chromosomes in a cell
• Chromosomal Pattern


  A description of the number and structure of chromosomes in a cell
• FISH


  A molecular cytogenetic technique to detect specific DNA sequences in a cell
• Chromosomal Banding


  Techniques to visualize chromosomes and identify specific chromosomal regions
• Missense Mutation

  A point mutation that changes a codon, resulting in a different amino acid
• Nonsense Mutation


  A point mutation that causes the premature termination of protein synthesis
• Trisomy 21

  A chromosomal disorder characterized by an extra copy of chromosome 21, causing Down syndrome
• Polygenic Inheritance

  A trait influenced by multiple genes, each with multiple alleles
• Co-dominant Epistasis


  A situation where the alleles of two genes are expressed equally and independently
• Epistasis


  A situation where the expression of one gene depends on the alleles of another gene
• Mendelian Trait


  A trait that follows Mendel's laws of inheritance, where the genotype and phenotype are closely linked
• Non-Mendelian Trait


  A trait that does not follow Mendel's laws of inheritance, where the genotype and phenotype are not closely linked or where epistasis plays a role