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Identification of Y Chromosome From Free Circulating DNA in Patients With Turner Syndrome

RecruitingNAAges 2 Years - 74 YearsFemaleUniversity Hospital, Strasbourg, France
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In plain words

What the trial is, and whether it could suit you

Turner syndrome affects 1/2500 female newborns. It is characterized by a short stature, gonadal dysgenesis and bone anomalies. It is secondary to X chromosome abnormality. The clinical course can be marked by various complications, including degeneration of gonadal streaks into cancer (gonadoblastoma). The risk of gonadoblastoma is increased by the presence of Y chromosome, with a risk of 19 to 43%. However, Y chromosome material may be difficult to identify due to its mosaic state, at varying rates depending on the tissue. Free circulating DNA (cfDNA) corresponds to fragments of extracellular DNA present in the plasma, released into the circulation during cell death processes by the various tissues of the body. Due to its multiple tissue origins and easy collection, cfDNA appears to be a suitable matrix for searching for low mosaic Y chromosome sequences in patients with Turner syndrome

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
Inclusion Criteria: * patient aged 2 to 74 years * with a diagnosis of Turner syndrome confirmed by karyotype * who have given their consent or whose legal representative(s) have given their consent(s) consent(s) to participate in the study * affiliated to the French Social Security system or benefiting from such a system Exclusion Criteria: * male phenotype * patient or legal representative(s) with comprehension difficulties (linguistic, etc.) * patients covered by articles L.1121-5 to L.1121-8 of the CSP (French Public Health Code)
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What it tests

  • cfDNA analysis
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Where

2 sites
Hospice Civil de Lyon
Lyon, France
Hopitaux Universitaire de strasbourg
Strasbourg, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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