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16p11.2 Duplication Syndrome - a Case Report
Mariya Levkova1, Milena Stoyanova1, Rada Staneva2
1Medical University of Varna, Varna, Bulgaria.
Folia Medica
|March 2, 2021
Summary
16p11.2 duplication syndrome, a genetic disorder, often presents with intellectual disability and behavioral issues. Array comparative genomic hybridization is crucial for diagnosing this condition in children with unexplained developmental delays.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Pediatrics
Background:
- 16p11.2 duplication syndrome is a rare genetic disorder.
- It is frequently associated with intellectual disability, ADHD, epilepsy, and schizophrenia.
- Characteristic dysmorphic features are absent, though microcephaly, micrognathia, and hypertelorism may occur.
