Optical genome mapping in addition to cytogenetic characterization based on apparently balanced chromosome translocations

Not Applicable

• Conditions: Q99.9; Chromosomal abnormality, unspecified

• Registration Number: DRKS00026087
• Lead Sponsor: niversitätsklinikum FreiburgInstitut für Humangenetik

Brief Summary

We emphasize the importance of a combination of conventional cytogenetics and molecular cytogenomic methods (e.g., OGM) to reveal the cause of monogenic diseases typically caused by single nucleotide variants. The combination of those different techniques in cases of reciprocally balanced translocations involving the FBN1 gene is helpful to understand the extent of the molecular etiology of Marfan syndrome. Thus, it has the potential to identify novel, clinically relevant FBN1 gene abnormalities that expand the diagnostic possibilities in patients with Marfan syndrome.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-08-13
• Results First Posted: 2021-11-21
• Study Completion: 2024-01-31
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Complete
• Sex: All
• Target Recruitment: 4

Inclusion Criteria

apparently balanced chromosome translocations

Exclusion Criteria

inconspicuous set of chromosomes

Study & Design

• Study Type: interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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 Outcome Measures

Name	Time	Method
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.