Clinical Dosage Map Legend

This map is best viewed on a screen larger than a mobile phone due to the amount of information presented.

1. 1. Select either deletion or duplication.
   2. Select the Genomic Build Version. This should be indicated on your genomics lab report next to the coordinates of the deletion or duplication.
   3. Type in the coordinates of the deletion or duplication. The region you selected will be indicated by an orange bar to the left of chromosome picture. If you do not know the coordinates or the Genomic Build Version, you can find them on your microarray report from the clinical diagnostic lab. Instructions for interpreting that report are here: How to Read a Microarray Report
   4. Select Genes or Phenotype Regions.

If you selected Genes:

The region you selected will be indicated by a green bar on the picture of the chromosome. The genes in the selected region which may have a clinical impact are shown in the window with 5 columns of information. The columns from left to right are:

1. 1. • The gene acronym name
      • The phenotype (medical condition) potentially caused by that gene.
      • The probability that the gene will cause the indicated medical issue if deleted or duplicated.
      • The variation in the clinical presentation of the condition
      • The strength of the evidence

When you select a gene, the data explaining the findings will appear below.

If you selected Phenotype Regions:

The region you selected will be indicated by a pink bar on the picture of the chromosome. The phenotype regions in the selected region which may have a clinical impact are shown in the window with 5 columns of information. The columns from left to right are:

1. 1. • The phenotype or medical condition
      • The degree of overlap of the phenotype region with the region you selected to view. This indicates if the region you selected completely encompasses the entire phenotype region or if the phenotype region extends beyond your region of interest.
      • The probability that the gene will cause the indicated medical issue if deleted or duplicated.
      • The variation in the clinical presentation of the condition
      • The strength of the evidence

When you select a phenotype region the data explaining the findings will appear below.