Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

Second Molecular Event Identification by Exome Sequencing for Intellectually Disabled Patients Carrying 16p13.11 CNVs

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.

Inclusion Criteria:

• Patients presenting intellectual disability
• Patients carrying a 16p13.11 copy number variant
• Blood DNA available without re sampling for the patient and his parents.
• Consent for genetics analysis already for the patient and his parents.

Exclusion Criteria:

- Other diagnosis for intellectual disability (apart 16p13.11 copy number variant) already posed