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Chromosome 22q11 microdeletion and congenital heart disease--a survey in a paediatric population
Insights
Microdeletion of chromosome 22q11 is rare in children with congenital heart disease. This study found only one case among 87 patients tested using fluorescent in-situ hybridization.
Area of Science:
- Genetics
- Pediatric Cardiology
- Molecular Biology
Background:
- Congenital heart disease (CHD) is frequently observed in individuals with 22q11.2 microdeletion syndrome.
- The epidemiological significance of 22q11.2 microdeletion as a cause of CHD requires further investigation.
Purpose of the Study:
- To ascertain the prevalence of 22q11.2 microdeletion in a pediatric cardiac patient cohort.
- To evaluate the association between 22q11.2 microdeletion and structural congenital heart disease.
Main Methods:
- Fluorescent in-situ hybridization (FISH) analysis using probe D22S75 was performed on blood samples.
- Patients were assessed for clinical features of 22q11.2 microdeletion and family history of CHD.
- A consecutive series of children in a pediatric cardiac clinic and neonates with structural CHD were studied.
Main Results:
- Out of 111 participating families (87 FISH results), one patient (1.1%) was diagnosed with 22q11.2 microdeletion, presenting with DiGeorge syndrome.
- No deletions were found in patients with CHARGE association, nasal speech, high arched palate, or minor facial dysmorphic features.
- The study identified a low prevalence of 22q11.2 microdeletion in the studied cohort.
Conclusions:
- 22q11.2 microdeletion, as detected by FISH with probe D22S75, is uncommon in patients with structural congenital heart disease.
- The findings suggest that 22q11.2 microdeletion is not a frequent cause of structural CHD in this population.
- Further research may be warranted to explore other genetic factors contributing to CHD.
Unlabelled:
Congenital heart disease is a common finding in patients with microdeletion of chromosome 22q11. To determine if the deletion is an epidemiologically important cause of congenital heart disease, we studied a consecutive series of children attending a paediatric cardiac clinic and of neonates diagnosed as having structural congenital heart disease. Venous blood samples were tested by fluorescent in-situ hybridisation analysis for microdeletion of chromosome 22q11 using probe D22S75. Each patient was examined for the other clinical features associated with microdeletion of chromosome 22q11, and any family history of congenital heart disease recorded. Of 151 families approached, 111 participated and a fluorescent in-situ hybridisation result achieved in 87. One patient with microdeletion of chromosome 22q11 was identified; the clinical features were those of DiGeorge syndrome. Two patients with CHARGE association, two with nasal speech, ten with high arched palate, and 15 with minor facial dysmorphic features had no deletion.
Conclusion:
Microdeletion of chromosome 22q11 detected by probe D22S75 is rare in this consecutive series of patients with structural congenital heart disease.