Chromosome 18 deletions
The genes known to have an effect when present in a single copy are shown at their positon on the chromosome on the left side of the chromosome image. Those listed in bold have an effect in more than 50% of the people with a deletion of that gene. Those shown in normal font have an effect in less than 50% of the people with a deletion of that gene.
The regions of the chromosome associated with a phenotype or condition are indicated as a bar at their positon on the chromosome to the right side of the chromosome image. The specific gene or genes that cause these conditions are not yet known. Narrowing down these regions and identifying the specific responsible genes is an ongoing area of investigation. The bars in dark gray in indicate the positions associated with conditions found in more than 50% of the people with a deletion of that entire region. The bars in lighter gray in indicate the positions associated with conditions found in less than 50% of the people with a deletion of that entire region.
Chromosome 18 duplications
The genes known to have an effect when present in three copies are shown at their positon on the chromosome on the left side of the chromosome image. Those listed in bold have an effect in more than 50% of the people with a duplication of that gene. Those shown in normal font have an effect in less than 50% of the people with a duplication of that gene.
The regions of the chromosome associated with a phenotype or condition are indicated as a bar at their positon on the chromosome to the right side of the chromosome image. The specific gene or genes that cause these conditions are not yet known. Narrowing down these regions and identifying the specific responsible genes is an ongoing area of investigation. The bars in dark gray in indicate the positions associated with conditions found in more than 50% of the people with a duplication of that entire region. The bars in lighter gray in indicate the positions associated with conditions found in less than 50% of the people with a duplication of that entire region.