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Chromosomal Rearrangements: Translocations definitions

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  • Translocation
    Movement of a chromosomal segment to a different chromosome, altering gene arrangement and inheritance patterns.
  • Reciprocal Translocation
    Exchange of acentric fragments between two non-homologous chromosomes, leading to complex segregation during meiosis.
  • Acentric Fragment
    Chromosomal piece lacking a centromere, often involved in exchanges during certain chromosomal rearrangements.
  • Adjacent-1 Segregation
    Meiotic outcome where non-homologous chromosomes segregate together, producing non-viable gametes due to incomplete gene sets.
  • Adjacent-2 Segregation
    Meiotic outcome where homologous chromosomes segregate together, also resulting in non-viable gametes lacking full genetic content.
  • Alternative Segregation
    Meiotic outcome where either all normal or all translocated chromosomes segregate together, yielding viable gametes with complete genes.
  • Homologous Chromosome
    Chromosome pair containing the same genes, which align during meiosis and influence segregation outcomes.
  • Robertsonian Translocation
    Fusion of two long arms from non-homologous acrocentric chromosomes, often resulting in a single chromosome and loss of short arms.
  • Acrocentric Chromosome
    Chromosome with a centromere near one end, producing a very short arm and a much longer arm.
  • Balanced Translocation
    Chromosomal rearrangement where all genetic material is present, though rearranged, typically causing no phenotypic effect.
  • Unbalanced Translocation
    Chromosomal rearrangement resulting in extra or missing genetic material, often leading to disorders or non-viable offspring.
  • Familial Down Syndrome
    Genetic condition caused by inheritance of a Robertsonian translocation involving chromosome 21, leading to trisomy 21.
  • Trisomy 21
    Presence of three copies of chromosome 21, resulting in Down syndrome, which can arise from chromosomal rearrangements.
  • Gamete Segregation
    Distribution of chromosomes into reproductive cells during meiosis, determining genetic outcomes in offspring.
  • Chromosomal Aberration
    Structural alteration in chromosomes, such as translocations, that can impact gene dosage and inheritance.