染色体異常 駆け足で読む『Quick Reference』of 『Human Molecular Gentics』

• 数の異常
  • Triploidy
    • 例　69,XXX, 69,XXY, 69,XYY
  • Trisomy
    • 例　47, XX,+21
  • Monosomy
    • 例　45,X
  • Mosaicism
    • 例　47,XXX/46,XX
• 構造異常
  • Deletion
  • Inversion
  • Duplication
  • Insertion
  • Ring chromosome
  • Marker
  • Reciprocal translocation
  • Robertsonian translocation