5.2 Effects of mutation II

Define ‘aneuploid’

A diploid chromosome set that is missing one chromosome

Define ‘haploinsufficiency’

The situation where inactivation of one of a pair of gene results in a change in the phenotype of the mutant organism

Define ‘monosomy’

The presence of a single copy of a pair of chromosomes in a nucleus that is otherwise diploid

Define ‘Philadelphia chromosome’

An abnormal chromosome resulting from a translocation between human chromosome 9 and 22, a common cause of chronic myeloid leukaemia 

Define ‘trisomy’

The presence of three copies of a chromosome in a nucleus that is otherwise diploid

How many copies of chromosome is diploid?

2 copies