Genetics

Down Syndrome

  • 1:800 live births
  • Chromosome 21 is the shortest chromosome and is acrocentric
  • Mostly due to chromosomal nondisjunction during meiosis
    • >80% during meiosis I
    • >95% derived from maternal meiosis
    • 5% have a translocation with another acrocentric chromosome (Note: translocation errors are…
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Retinoblastoma