Table 3 Checklist what optimally should be reported for each published UPD case
From: Uniparental disomy is a chromosomic disorder in the first place
Checklist what needs to be provided when reporting a UPD case | |
|---|---|
Include if there is/are | Mention also |
A clinical phenotype | Gender and age of patient |
Isodisomy, heterodisomy or mixed iso-/heterodisomy | Test performed and if there are restrictions in those |
A segmental, whole chromosome or several chromosomes affecting UPD | |
A chromosomal aberration detectable as underlying cause of the UPD event | |
A mosaic present | Which tissue(s) was/were studied |
Variant (mosaic) conditions in different tissues | |
Previous study in which the patient was already mentioned/published | If this cannot be completely excluded |