Mutations

-Chromosomal Mutations

   -Alterations of Chromosome Structure
      -chromosome breakage results in fragments of a chromosome that can be:
          -lost = deletion 
          -reattached to the original chromosome in the reverse order = inversion
          -joined to the homologous chromosome = duplication
          -joined to a nonhomologous chromosome = translocation

1.  Deletion
       -a portion of a chromosome breaks off 
          -human examples:
            -DiGeorge Syndrome 
            -Cri-du-chat Syndrome
            -Prader-Willi Syndrome

2.  Duplication
       -a segment of a chromosome is repeated 
         -human examples:
            -Charcot-Marie-Tooth disease
            -Pallister-Killian Syndrome 
            

3.  Inversion
       -a segment of a chromosome rotates its direction
         -human examples:
            -Haemophilia A
            -

4.  Translocation
       -a deleted segment from one chromosome becomes attached 
        to a different chromosome
         -human examples:
            -translocation Down Syndrome
            -chronic myelogenous leukemia

 

 

to more detailed notes

-GeneticHealth.com
-Univ. of Illinois at Chicago, College of Nursing
-Eastern Washington Univ. 
-Univ. of Virginia
-Johnson Community College
-Univ. of Utah