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16p13.11 copy number variations are considered as predisposition factors for neurodevelopmental disorders but can be inherited from normal parents. SEESIC aims at identifying seond molecular events by exome sequencing that could modulate the phenotype and explain familial discrepancies.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Patients presenting intellectual disability and previously diagnosed as carriers of a 16p13.11 copy number variant using Cytogenetic Micro Array. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Exome sequencing | Genetic | Detection of a second (likely) pathogenic molecular event on exome data for intellectual disability beyond the 16p13.11 Copy Number Variant. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Second pathogenic molecular event on exome data | Number of participants diagnosed as carrier of a (likely) pathogenic variation beyond 16p13.11 CNV through exome sequencing according to ACMG 2015 guidelines | 4 months |
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Inclusion Criteria:
Exclusion Criteria:
- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed
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Patients presenting intellectual disability and carrying a 16p13.11 copy number variant.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Nicolas CHATRON, MD | Contact | 0472129697 | +33 | nicolas.chatron@chu-lyon.fr |
| Name | Affiliation | Role |
|---|---|---|
| Nicolas CHATRON, MD | Hospices Civils de Lyon | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Femme Mère Enfant (Groupement Hospitalier Est) | Bron | France |
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| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| ID | Term |
|---|---|
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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| ID | Term |
|---|---|
| D000073359 | Exome Sequencing |
| ID | Term |
|---|---|
| D000073336 | Whole Genome Sequencing |
| D017422 | Sequence Analysis, DNA |
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
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| D013568 | Pathological Conditions, Signs and Symptoms |
| D065886 | Neurodevelopmental Disorders |
| D001523 | Mental Disorders |
| D008919 |
| Investigative Techniques |