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Updated: Jun 25, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[22q11 deletion syndrome: an expanding phenotype]
F Moreno Izco1, E Zuazo Zamalloa, S González Alvaredo
1Unidad de Neurologia, Hospital Zumárraga, Zumárraga. fmoreno@hzum.osakidetza.net
Neurologia (Barcelona, Spain)
|February 14, 2009
Summary
Epilepsy can be an uncommon symptom of 22q11 deletion syndrome, a common microdeletion disorder. Early diagnosis is crucial for managing this condition and its varied symptoms.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Chromosome 22q11 deletion syndrome (22q11DS) is a prevalent microdeletion disorder.
- It presents with diverse manifestations including cardiac defects, immunodeficiency, cleft palate, dysmorphic features, developmental delay, and neuropsychiatric symptoms.
- Epilepsy is an infrequent but recognized manifestation of 22q11DS.
Observation:
- A 15-year-old female with developmental delay and learning difficulties presented with generalized and partial complex epileptic seizures.
- No other known risk factors for seizures were present.
- Standard investigations including brain MRI and EEG were normal.
Findings:
- The patient's neuropsychiatric history, phenotype (nasal voice, dysmorphic features), and unexplained epilepsy prompted genetic testing.
- Fluorescence in situ hybridization (FISH) confirmed the 22q11 deletion, establishing the diagnosis.
- This case highlights epilepsy as an atypical presentation of 22q11DS.
Implications:
- Increased awareness of 22q11DS is essential among specialists for diagnosing atypical presentations.
- Subtle clinical clues like facial dysmorphism and nasal speech can aid in identifying affected individuals.
- Recognizing epilepsy as a potential symptom broadens the phenotypic spectrum of 22q11DS, improving diagnostic yield and patient management.
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