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