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The Contribution of Optical Mapping to the Characterization of Chromosomal Rearrangements in Patients With Neurodevelopmental Disorders

Recruitingn/aAges 2 Years - anyAllAssistance Publique - Hôpitaux de Paris
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In plain words

What the trial is, and whether it could suit you

In neurodevelomental disorders, duplications are genomic variations that are difficult to interpret because their orientation cannot be defined by conventional techniques (ACPA and FISH). However, their orientation determines whether a gene disruption and potential loss of function can be validated or not. The same applies to complex chromosomal rearrangements that can involve duplications and deletions, the interpretation of which is made difficult by the limitations of conventional techniques. The Bionano technique is an optical cartography genomic method that will provide access to this information by specifying both balanced and unbalanced chromosomal anomalies, their genomic location, and orientation. Our study is a prospective and multicentric (N=4) study involving 35 patients with neurodevelopmental disorders (NDD) and carrying a chromosomal anomaly identified by chromosomal micro

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📋 Eligibility rules (as published)
Inclusion Criteria: * Patients: children aged 2 and over at the time of inclusion (and up to 20 years of age) * Patients followed at Robert Debré for TND who, as part of their care, * who have undergone chromosomal analysis by DNA microarray (ACPA) which has identified a chromosomal abnormality of difficult interpretation (duplication or complex rearrangement). Exclusion Criteria: * Patients without medical insurance
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What it tests

  • blood sampling of all patients and their parents
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Where

1 site
Robert Debré Hospital
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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