1. Higher Human Biology Unit 1 – Human Cells
Chromosome Mutations
Higher Human Biology
Unit 1 – Human Cells

2. Chromosome structure mutation involves the breakage of one or more chromosomes. The broken end of a chromosome can join up with another broken end. This can bring about a change in the number or sequence of genes in a chromosome.

3. Four different types of chromosome structure mutation are shown below; deletion, duplication, inversion and translocation.

4. Chromosome structure mutations often involve substantial changes and the loss of several functional genes - often the mutation is lethal.

5. Disorders caused by chromosome structure mutations
Cri-du-chat syndrome, chronic myeloid leukaemia and familial Down`s syndrome are conditions caused by chromosome structural changes.
Carry out a case study on one of these conditions. Describe the symptoms of the condition, the type of mutation that causes the condition and how it can be treated if at all. Pages in Torrance will be useful.