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Updated: May 7, 2026
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Autistic disorder and 22q11.2 duplication
Nahit Motavalli Mukaddes1, Sabri Herguner
1Department of Child and Adolescent Psychiatry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey. nmotavalli@yahoo.com
Summary
This study reports the first case of autism spectrum disorder in a child with 22q11.2 duplication syndrome. This finding expands the known psychiatric manifestations associated with this genetic condition.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Clinical Case Study
Background:
- Autism spectrum disorder (ASD) is frequently associated with various chromosomal abnormalities.
- 22q11.2 deletion syndrome is a known cause of developmental issues, but 22q11.2 duplication has not been previously linked to autism.
Observation:
- A 9-year-old girl presented with behavioral problems and language delay, diagnosed with autistic disorder.
- She exhibited dysmorphic features and a history of cleft palate and cardiac issues.
- Cytogenetic analysis revealed 22q11.2 duplication, initially suspected as velocardiofacial syndrome.
Findings:
- This is the first reported case of co-occurrence between autism spectrum disorder and 22q11.2 duplication syndrome.
- The genetic analysis utilized interphase fluorescence in situ hybridization (FISH).
- Previously documented psychiatric aspects of 22q11.2 duplication include hyperactivity and aggression, but not autism.
Implications:
- This case broadens the phenotypic spectrum of 22q11.2 duplication syndrome.
- It suggests that 22q11.2 duplication may be an under-recognized genetic cause of autism.
- Further research and improved diagnostic techniques may uncover more cases, addressing potential technical limitations in detection.
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