Biology › Section G · Chromosomes and DNA › Topic G.2

Chromosomal basis of inherited disorders

Meiosis is regulated, but not perfect. When chromosomes miscount or break, the results show up in a karyogram - a photographed, stained, sorted inventory of a person's chromosomes - as extra copies, missing pieces, or rearranged segments. Reading that chart is how clinicians see disorders like Down, Turner, and Klinefelter syndromes before a child is born.

In this topic

  • Karyotypes: the chromosome photograph
  • The language of chromosomes
  • Nondisjunction: the count goes wrong
  • Aneuploidy and gene dosage
  • Why sex chromosome errors are milder
  • Deletions and duplications
  • Inversions: reversing a segment
  • Translocations: moving a segment
  • Worked example: census of a failed meiosis
  • Worked example: three karyograms
  • Common mistakes to avoid
  • Key takeaways

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