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
- Triploidy
- 構造異常
- Deletion
- Inversion
- Duplication
- Insertion
- Ring chromosome
- Marker
- Reciprocal translocation
- Robertsonian translocation