Q99.9
Conditions
Interventions
Group 1: Further investigations are carried out on the blood of patients from the human genetic counseling who have chromosome aberrations balanced at the cytogenetic level.
Sponsors
Universitätsklinikum FreiburgInstitut für Humangenetik
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: apparently balanced chromosome translocations
Exclusion criteria
Exclusion criteria: inconspicuous set of chromosomes
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary goal of the project and the further investigations is to clarify the previously unexplained cases with a genomic aberration regarding to the clinical abnormalities of the patients. In addition to conventional cytogenetic and molecular cytogenetic methods, the secondary aim is to evaluate and integrate optical genome mapping into routine diagnostics. | — |
Secondary
| Measure | Time frame |
|---|---|
| By comparing and expanding methodological approaches, various diagnostic options are to be discussed. The aim is to achieve a long-term benefit for the affected patients concerning a clear diagnosis and subsequent therapy. | — |
Countries
Germany
Contacts
Public ContactJudith Fischer
Institut für Humangenetik FreiburgUniversitätsklinikum Freiburg
Outcome results
None listed