Dr Paul Reynolds

what is aneuploidy?

Aneuploidy is a genetic disorder where the total number of chromosomes doesn't equal 46

what is an acrocentric chromosome

Robertsonian translocation is ...

small acrocentric chromosomes sticking end to end

• 1 explain basic chromosomal organisation

they are orginised by classification, most chromosome pictures that you will see are arranged by length order. they can then be classified by centromere location and be differentiated by specific patterns using different stainings the sex chromosomes are always arranged at the end of the chromosomes

• 2 understand what the major chromosomal abnormalities are

insertion, deletion, reciprical translocation, inversion, philadelphia chromosome (22 &9). robertsonian translocation

A piece of chromosome 9 and a piece of chromosome 22 break off and trade places . The BCR-ABL gene is formed on chromosome 22 where the piece of chromosome 9 attaches. The changed chromosome 22 is called the Philadelphia chromosome.

that can lead to the development of chronic myelogenous leukemia

95% of patients who have chronic myleoid leukemia have philidelphia chromosome

• 3 appreciate the clinical effects of chromosomal abnormalities including the relevance to cancer

philidelphia chromosome can lead to the development of chronic myelogenous leukemia