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Chromosomal Rearrangements: Overview definitions

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  • Chromosomal Rearrangement
    Structural alteration of a chromosome, often involving changes like deletion, duplication, inversion, or translocation of segments.
  • Deletion
    Loss of a chromosome segment, resulting in missing genetic material and potential gene dosage changes.
  • Duplication
    Presence of an extra copy of a chromosome segment, increasing gene dosage and potentially altering phenotype.
  • Inversion
    Reversal of a chromosome segment's orientation, changing gene order without altering gene dosage.
  • Translocation
    Exchange or movement of chromosome segments between nonhomologous chromosomes, often altering gene arrangement.
  • Emergence
    Formation of a novel chromosome structure due to rearrangement, potentially impacting genetic function.
  • Centromere
    Chromosomal region where microtubules attach during cell division, crucial for proper segregation.
  • Acentric Chromosome
    Chromosome lacking a centromere, often unable to segregate properly during cell division.
  • Dicentric Chromosome
    Chromosome containing two centromeres, which can cause segregation problems during cell division.
  • Anaphase Bridge
    Structure formed when a dicentric chromosome is pulled toward opposite poles, risking chromosome breakage.
  • Microtubule
    Cytoskeletal filament that attaches to centromeres, facilitating chromosome movement during cell division.
  • Gene Dosage
    Number of gene copies present in a cell, influencing phenotype when altered by rearrangements.
  • Unbalanced Rearrangement
    Chromosomal change resulting in altered gene dosage, typically through deletion or duplication.
  • Balanced Rearrangement
    Chromosomal change that preserves gene dosage but alters gene order, often via inversion or translocation.
  • Homologous Pair
    Set of chromosomes containing the same genes, one inherited from each parent, often referenced in rearrangement examples.