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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India
Inusha Panigrahi1, Sudha Rao2, Shalu Verma Kumar2
1Department of Pediatrics APC PGIMER, Chandigarh, India.
Case Reports in Genetics
|September 12, 2024
Summary
Genetic testing using advanced sequencing identifies de novo variants causing intellectual disability (ID) in children and adolescents. This aids diagnosis, genetic counseling, and understanding of sporadic ID cases.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Intellectual disability (ID) affects approximately 2.5% of the global population, with varying severity.
- While some forms of ID are inherited, many autosomal dominant cases arise from de novo mutations, making recurrence in families unlikely.
- Accurate diagnosis of ID is crucial for management and genetic counseling.
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