Genome Abnormality
Hans Cools, MD, Agfa Healthcare/Belgium
Agfa Healthcare/Belgium
Formal general description of genome abnormality.
OWL Full
genome abnormality
Genome different from what is normal for an organism.
chromosome abnormality
Chromosome different from what is normal for an organism.
aneuploidy
Numerical chromosome abnormality.
chromosome mutation
Structural chromosome abnormality.
single chromosome mutation
Structural abnormality of 1 chromosome.
chromosome deletion
Loss of part of 1 chromosome.
chromosome duplication
Duplication of part of 1 chromosome.
chromosome inversion
Inversion of part of 1 chromosome.
two chromosome mutation
Structural abnormality of 2 chromosomes.
chromosome insertion
Part of one chromosome inserted into another chromosome.
chromosome translocation
One part of 2 chromosomes exchanged.
gene abnormality
Gene different from what is normal for an organism.
monogenic mutation
One gene different from what is normal for an organism.
polygenic mutation
More than one gene different from what is normal for an organism.
mutated
State of chromosome or gene being structurally changed.
unmutated
State of chromosome or gene being structurally unchanged.