Search for Structural Variants in Patients With DSD and Inconclusive Molecular Diagnosis
Recruiting
N/A
Interventional Study
Disorder of Sex Development, 46,XY
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Age
- 6 Months and older
- Sex
- Male
- Study type
- Interventional
- Purpose
- Diagnostic
- Participants needed
- 20 (estimated)
- Sponsor
- University Hospital, Montpellier · Other
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About This Trial
The goal of this clinical trial is to identify structural variants by Optical Genome Mapping (OGM) in the described participant population.
The main questions it aims to answer are:
* Identify constitutional structural variants by OGM of DNA extracted from blood leukocytes of patients with DSD for which the molecular diagnosis is inconclusive.
* Identify mosaic structural variants (present in a …
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* homogeneous XY male karyotype.
* patient at least 6 months old
* severe to moderate DSD (Prader 1 to 5) for which the molecular diagnosis is inconclusive after a gene panel analysis.
Exclusion Criteria:
* subject with a homogeneous or mosaic XX, or monosomal X karyotype.
* s…
Contacts