Chromosomal Structural Abnormalities

Structural abnormalities include:

Structural chromosome abnormalities

Figure 1: Structural chromosome abnormalities

  • Deletion: A part of the chromosome is missing or deleted.

  • Inversion: A part of the chromosome is broken off, turned upside down and is reattached to the same place. Types of chromosome inversion are: pericentric inversion and paracentric inversion

  • Translocation: A part of one chromosome is exchanged with a part of another chromosome. Types of translocation are: Reciprocal and Robertsonian translocation

  • Duplication: A part of the chromosome is duplicated, resulting in extra genetic material. Examples: duplication of 9p