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Updated: Jun 25, 2026
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Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
22q11 chromosome abnormalities and the cleft service
N Nugent1, A McGillivary, M J Earley
1Department of Plastic Surgery, Children's University Hospital, Temple Street, Dublin 1, Ireland. noranugent@gmail.com
Summary
Children with 22q11 deletion syndrome often have cleft palate and velopharyngeal issues. Early diagnosis of this genetic condition is crucial for comprehensive, multidisciplinary care.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- 22q11 deletion syndrome, also known as DiGeorge or velocardiofacial syndrome, is associated with a range of anomalies.
- Cleft palate and velopharyngeal incompetence are common manifestations in affected individuals.
- Patients with this syndrome represent a significant subgroup within cleft care services.
Purpose of the Study:
- To analyze the characteristics and management of patients with 22q11 deletion syndrome presenting with cleft palate.
- To highlight the frequent comorbidities and multidisciplinary needs of these patients.
- To emphasize the importance of early diagnosis for effective intervention.
Main Methods:
- Retrospective review of 16 patients diagnosed with 22q11 deletion over a ten-year period.
- Analysis of patient records for cleft palate, velopharyngeal function, surgical interventions, comorbidities, and developmental outcomes.
- Chromosome analysis for diagnosis of 22q11 deletion.
Main Results:
- All 16 patients had cleft palate and/or velopharyngeal incompetence, requiring primary and sometimes secondary palate surgery.
- Speech quality was the primary indication for secondary palate surgeries in most cases.
- 14 patients had significant comorbidities (e.g., congenital heart disease, ocular abnormalities), and 15 had developmental delays or learning difficulties.
Conclusions:
- 22q11 deletion syndrome is a significant diagnosis in cleft services, requiring extensive multidisciplinary input.
- Early recognition and diagnosis facilitate more efficient management and intervention for these complex patients.
- Comprehensive care involving genetics, cardiology, ENT, and ophthalmology is essential.
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